Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197434995_197435008delCA2649670640CRB1c.3132_3145del (p.Leu1045GlnfsTer28)
c.2013_2026del (p.Leu672GlnfsTer28)
c.1275_1288del (p.Leu426GlnfsTer28)
c.2796_2809del (p.Leu933GlnfsTer28)
c.3060_3073del (p.Leu1021GlnfsTer28)
c.2129-605_2129-592del (n.2129-605_2129-592del)
n.3133_3146del
n.3341_3354del
c.2550_2563del (p.Leu851GlnfsTer28)
c.1575_1588del (p.Leu526GlnfsTer28)
c.2289_2302del (p.Leu764GlnfsTer28)
c.3267_3280del (p.Leu1090GlnfsTer28)
n.3085_3098del
n.3293_3306del
 gnomAD v4
1g.197435005_197435012delCA2580061935CRB1c.3142_3149del (p.Thr1048ValfsTer27)
c.2023_2030del (p.Thr675ValfsTer27)
c.1285_1292del (p.Thr429ValfsTer27)
c.2806_2813del (p.Thr936ValfsTer27)
c.3070_3077del (p.Thr1024ValfsTer27)
c.2129-595_2129-588del (n.2129-595_2129-588del)
n.3143_3150del
n.3351_3358del
c.2560_2567del (p.Thr854ValfsTer27)
c.1585_1592del (p.Thr529ValfsTer27)
c.2299_2306del (p.Thr767ValfsTer27)
c.3277_3284del (p.Thr1093ValfsTer27)
n.3095_3102del
n.3303_3310del
 ClinVar
1g.197435005_197435017delinsACCTCCAGGTGGCCA1218068756CRB1c.3142_3154delinsACCTCCAGGTGGC (p.Thr1048=)
c.2023_2035delinsACCTCCAGGTGGC (p.Thr675=)
c.1285_1297delinsACCTCCAGGTGGC (p.Thr429=)
c.2806_2818delinsACCTCCAGGTGGC (p.Thr936=)
c.3070_3082delinsACCTCCAGGTGGC (p.Thr1024=)
c.2129-595_2129-583delinsACCTCCAGGTGGC (n.2129-595_2129-583delinsACCTCCAGGTGGC)
n.3143_3155delinsACCTCCAGGTGGC
n.3351_3363delinsACCTCCAGGTGGC
c.2560_2572delinsACCTCCAGGTGGC (p.Thr854=)
c.1585_1597delinsACCTCCAGGTGGC (p.Thr529=)
c.2299_2311delinsACCTCCAGGTGGC (p.Thr767=)
c.3277_3289delinsACCTCCAGGTGGC (p.Thr1093=)
n.3095_3107delinsACCTCCAGGTGGC
n.3303_3315delinsACCTCCAGGTGGC
1g.197435006_197435017delinsACA1139656481CRB1c.3143_3154delinsA (p.Thr1048LysfsTer26)
c.2024_2035delinsA (p.Thr675LysfsTer26)
c.1286_1297delinsA (p.Thr429LysfsTer26)
c.2807_2818delinsA (p.Thr936LysfsTer26)
c.3071_3082delinsA (p.Thr1024LysfsTer26)
c.2129-594_2129-583delinsA (n.2129-594_2129-583delinsA)
n.3144_3155delinsA
n.3352_3363delinsA
c.2561_2572delinsA (p.Thr854LysfsTer26)
c.1586_1597delinsA (p.Thr529LysfsTer26)
c.2300_2311delinsA (p.Thr767LysfsTer26)
c.3278_3289delinsA (p.Thr1093LysfsTer26)
n.3096_3107delinsA
n.3304_3315delinsA
 ClinVar dbSNP
1g.197435008T>ACA344045986CRB1c.3145T>A (p.Ser1049Thr)
c.2026T>A (p.Ser676Thr)
c.1288T>A (p.Ser430Thr)
c.2809T>A (p.Ser937Thr)
c.3073T>A (p.Ser1025Thr)
c.2129-592T>A (n.2129-592T>A)
n.3146T>A
n.3354T>A
c.2563T>A (p.Ser855Thr)
c.1588T>A (p.Ser530Thr)
c.2302T>A (p.Ser768Thr)
c.3280T>A (p.Ser1094Thr)
n.3098T>A
n.3306T>A
1g.197435008T>CCA344045988CRB1c.3145T>C (p.Ser1049Pro)
c.2026T>C (p.Ser676Pro)
c.1288T>C (p.Ser430Pro)
c.2809T>C (p.Ser937Pro)
c.3073T>C (p.Ser1025Pro)
c.2129-592T>C (n.2129-592T>C)
n.3146T>C
n.3354T>C
c.2563T>C (p.Ser855Pro)
c.1588T>C (p.Ser530Pro)
c.2302T>C (p.Ser768Pro)
c.3280T>C (p.Ser1094Pro)
n.3098T>C
n.3306T>C
 ClinVar
1g.197435008T>GCA344045990CRB1c.3145T>G (p.Ser1049Ala)
c.2026T>G (p.Ser676Ala)
c.1288T>G (p.Ser430Ala)
c.2809T>G (p.Ser937Ala)
c.3073T>G (p.Ser1025Ala)
c.2129-592T>G (n.2129-592T>G)
n.3146T>G
n.3354T>G
c.2563T>G (p.Ser855Ala)
c.1588T>G (p.Ser530Ala)
c.2302T>G (p.Ser768Ala)
c.3280T>G (p.Ser1094Ala)
n.3098T>G
n.3306T>G
1g.197435009C>ACA344045997CRB1c.3146C>A (p.Ser1049Tyr)
c.2027C>A (p.Ser676Tyr)
c.1289C>A (p.Ser430Tyr)
c.2810C>A (p.Ser937Tyr)
c.3074C>A (p.Ser1025Tyr)
c.2129-591C>A (n.2129-591C>A)
n.3147C>A
n.3355C>A
c.2564C>A (p.Ser855Tyr)
c.1589C>A (p.Ser530Tyr)
c.2303C>A (p.Ser768Tyr)
c.3281C>A (p.Ser1094Tyr)
n.3099C>A
n.3307C>A
1g.197435009C=CA1218068757CRB1c.3146C= (p.Ser1049=)
c.2027C= (p.Ser676=)
c.1289C= (p.Ser430=)
c.2810C= (p.Ser937=)
c.3074C= (p.Ser1025=)
c.2129-591C= (n.2129-591C=)
n.3147C=
n.3355C=
c.2564C= (p.Ser855=)
c.1589C= (p.Ser530=)
c.2303C= (p.Ser768=)
c.3281C= (p.Ser1094=)
n.3099C=
n.3307C=
1g.197435009C>GCA344046004CRB1c.3146C>G (p.Ser1049Cys)
c.2027C>G (p.Ser676Cys)
c.1289C>G (p.Ser430Cys)
c.2810C>G (p.Ser937Cys)
c.3074C>G (p.Ser1025Cys)
c.2129-591C>G (n.2129-591C>G)
n.3147C>G
n.3355C>G
c.2564C>G (p.Ser855Cys)
c.1589C>G (p.Ser530Cys)
c.2303C>G (p.Ser768Cys)
c.3281C>G (p.Ser1094Cys)
n.3099C>G
n.3307C>G
 ClinVar dbSNP gnomAD v4
1g.197435009C>TCA344046022CRB1c.3146C>T (p.Ser1049Phe)
c.2027C>T (p.Ser676Phe)
c.1289C>T (p.Ser430Phe)
c.2810C>T (p.Ser937Phe)
c.3074C>T (p.Ser1025Phe)
c.2129-591C>T (n.2129-591C>T)
n.3147C>T
n.3355C>T
c.2564C>T (p.Ser855Phe)
c.1589C>T (p.Ser530Phe)
c.2303C>T (p.Ser768Phe)
c.3281C>T (p.Ser1094Phe)
n.3099C>T
n.3307C>T
1g.197435010C>ACA422809030CRB1c.3147C>A (p.Ser1049=)
c.2028C>A (p.Ser676=)
c.1290C>A (p.Ser430=)
c.2811C>A (p.Ser937=)
c.3075C>A (p.Ser1025=)
c.2129-590C>A (n.2129-590C>A)
n.3148C>A
n.3356C>A
c.2565C>A (p.Ser855=)
c.1590C>A (p.Ser530=)
c.2304C>A (p.Ser768=)
c.3282C>A (p.Ser1094=)
n.3100C>A
n.3308C>A
1g.197435010C=CA1218068758CRB1c.3147C= (p.Ser1049=)
c.2028C= (p.Ser676=)
c.1290C= (p.Ser430=)
c.2811C= (p.Ser937=)
c.3075C= (p.Ser1025=)
c.2129-590C= (n.2129-590C=)
n.3148C=
n.3356C=
c.2565C= (p.Ser855=)
c.1590C= (p.Ser530=)
c.2304C= (p.Ser768=)
c.3282C= (p.Ser1094=)
n.3100C=
n.3308C=
1g.197435010C>GCA422809032CRB1c.3147C>G (p.Ser1049=)
c.2028C>G (p.Ser676=)
c.1290C>G (p.Ser430=)
c.2811C>G (p.Ser937=)
c.3075C>G (p.Ser1025=)
c.2129-590C>G (n.2129-590C>G)
n.3148C>G
n.3356C>G
c.2565C>G (p.Ser855=)
c.1590C>G (p.Ser530=)
c.2304C>G (p.Ser768=)
c.3282C>G (p.Ser1094=)
n.3100C>G
n.3308C>G
1g.197435010C>TCA422809035CRB1c.3147C>T (p.Ser1049=)
c.2028C>T (p.Ser676=)
c.1290C>T (p.Ser430=)
c.2811C>T (p.Ser937=)
c.3075C>T (p.Ser1025=)
c.2129-590C>T (n.2129-590C>T)
n.3148C>T
n.3356C>T
c.2565C>T (p.Ser855=)
c.1590C>T (p.Ser530=)
c.2304C>T (p.Ser768=)
c.3282C>T (p.Ser1094=)
n.3100C>T
n.3308C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197435011A=CA1218068759CRB1c.3148A= (p.Arg1050=)
c.2029A= (p.Arg677=)
c.1291A= (p.Arg431=)
c.2812A= (p.Arg938=)
c.3076A= (p.Arg1026=)
c.2129-589A= (n.2129-589A=)
n.3149A=
n.3357A=
c.2566A= (p.Arg856=)
c.1591A= (p.Arg531=)
c.2305A= (p.Arg769=)
c.3283A= (p.Arg1095=)
n.3101A=
n.3309A=
1g.197435011A>CCA422809036CRB1c.3148A>C (p.Arg1050=)
c.2029A>C (p.Arg677=)
c.1291A>C (p.Arg431=)
c.2812A>C (p.Arg938=)
c.3076A>C (p.Arg1026=)
c.2129-589A>C (n.2129-589A>C)
n.3149A>C
n.3357A>C
c.2566A>C (p.Arg856=)
c.1591A>C (p.Arg531=)
c.2305A>C (p.Arg769=)
c.3283A>C (p.Arg1095=)
n.3101A>C
n.3309A>C
1g.197435011A>GCA344046025CRB1c.3148A>G (p.Arg1050Gly)
c.2029A>G (p.Arg677Gly)
c.1291A>G (p.Arg431Gly)
c.2812A>G (p.Arg938Gly)
c.3076A>G (p.Arg1026Gly)
c.2129-589A>G (n.2129-589A>G)
n.3149A>G
n.3357A>G
c.2566A>G (p.Arg856Gly)
c.1591A>G (p.Arg531Gly)
c.2305A>G (p.Arg769Gly)
c.3283A>G (p.Arg1095Gly)
n.3101A>G
n.3309A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435011A>TCA344046027CRB1c.3148A>T (p.Arg1050Trp)
c.2029A>T (p.Arg677Trp)
c.1291A>T (p.Arg431Trp)
c.2812A>T (p.Arg938Trp)
c.3076A>T (p.Arg1026Trp)
c.2129-589A>T (n.2129-589A>T)
n.3149A>T
n.3357A>T
c.2566A>T (p.Arg856Trp)
c.1591A>T (p.Arg531Trp)
c.2305A>T (p.Arg769Trp)
c.3283A>T (p.Arg1095Trp)
n.3101A>T
n.3309A>T
1g.197435012G>ACA344046031CRB1c.3149G>A (p.Arg1050Lys)
c.2030G>A (p.Arg677Lys)
c.1292G>A (p.Arg431Lys)
c.2813G>A (p.Arg938Lys)
c.3077G>A (p.Arg1026Lys)
c.2129-588G>A (n.2129-588G>A)
n.3150G>A
n.3358G>A
c.2567G>A (p.Arg856Lys)
c.1592G>A (p.Arg531Lys)
c.2306G>A (p.Arg769Lys)
c.3284G>A (p.Arg1095Lys)
n.3102G>A
n.3310G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435012G>CCA344046036CRB1c.3149G>C (p.Arg1050Thr)
c.2030G>C (p.Arg677Thr)
c.1292G>C (p.Arg431Thr)
c.2813G>C (p.Arg938Thr)
c.3077G>C (p.Arg1026Thr)
c.2129-588G>C (n.2129-588G>C)
n.3150G>C
n.3358G>C
c.2567G>C (p.Arg856Thr)
c.1592G>C (p.Arg531Thr)
c.2306G>C (p.Arg769Thr)
c.3284G>C (p.Arg1095Thr)
n.3102G>C
n.3310G>C
1g.197435012G=CA1218068760CRB1c.3149G= (p.Arg1050=)
c.2030G= (p.Arg677=)
c.1292G= (p.Arg431=)
c.2813G= (p.Arg938=)
c.3077G= (p.Arg1026=)
c.2129-588G= (n.2129-588G=)
n.3150G=
n.3358G=
c.2567G= (p.Arg856=)
c.1592G= (p.Arg531=)
c.2306G= (p.Arg769=)
c.3284G= (p.Arg1095=)
n.3102G=
n.3310G=
1g.197435012G>TCA344046038CRB1c.3149G>T (p.Arg1050Met)
c.2030G>T (p.Arg677Met)
c.1292G>T (p.Arg431Met)
c.2813G>T (p.Arg938Met)
c.3077G>T (p.Arg1026Met)
c.2129-588G>T (n.2129-588G>T)
n.3150G>T
n.3358G>T
c.2567G>T (p.Arg856Met)
c.1592G>T (p.Arg531Met)
c.2306G>T (p.Arg769Met)
c.3284G>T (p.Arg1095Met)
n.3102G>T
n.3310G>T
1g.197435013G>ACA1312283CRB1c.3150G>A (p.Arg1050=)
c.2031G>A (p.Arg677=)
c.1293G>A (p.Arg431=)
c.2814G>A (p.Arg938=)
c.3078G>A (p.Arg1026=)
c.2129-587G>A (n.2129-587G>A)
n.3151G>A
n.3359G>A
c.2568G>A (p.Arg856=)
c.1593G>A (p.Arg531=)
c.2307G>A (p.Arg769=)
c.3285G>A (p.Arg1095=)
n.3103G>A
n.3311G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435013G>CCA344046047CRB1c.3150G>C (p.Arg1050Ser)
c.2031G>C (p.Arg677Ser)
c.1293G>C (p.Arg431Ser)
c.2814G>C (p.Arg938Ser)
c.3078G>C (p.Arg1026Ser)
c.2129-587G>C (n.2129-587G>C)
n.3151G>C
n.3359G>C
c.2568G>C (p.Arg856Ser)
c.1593G>C (p.Arg531Ser)
c.2307G>C (p.Arg769Ser)
c.3285G>C (p.Arg1095Ser)
n.3103G>C
n.3311G>C
1g.197435013G=CA1218068761CRB1c.3150G= (p.Arg1050=)
c.2031G= (p.Arg677=)
c.1293G= (p.Arg431=)
c.2814G= (p.Arg938=)
c.3078G= (p.Arg1026=)
c.2129-587G= (n.2129-587G=)
n.3151G=
n.3359G=
c.2568G= (p.Arg856=)
c.1593G= (p.Arg531=)
c.2307G= (p.Arg769=)
c.3285G= (p.Arg1095=)
n.3103G=
n.3311G=
1g.197435013G>TCA344046041CRB1c.3150G>T (p.Arg1050Ser)
c.2031G>T (p.Arg677Ser)
c.1293G>T (p.Arg431Ser)
c.2814G>T (p.Arg938Ser)
c.3078G>T (p.Arg1026Ser)
c.2129-587G>T (n.2129-587G>T)
n.3151G>T
n.3359G>T
c.2568G>T (p.Arg856Ser)
c.1593G>T (p.Arg531Ser)
c.2307G>T (p.Arg769Ser)
c.3285G>T (p.Arg1095Ser)
n.3103G>T
n.3311G>T
1g.197435014T>ACA344046073CRB1c.3151T>A (p.Trp1051Arg)
c.2032T>A (p.Trp678Arg)
c.1294T>A (p.Trp432Arg)
c.2815T>A (p.Trp939Arg)
c.3079T>A (p.Trp1027Arg)
c.2129-586T>A (n.2129-586T>A)
n.3152T>A
n.3360T>A
c.2569T>A (p.Trp857Arg)
c.1594T>A (p.Trp532Arg)
c.2308T>A (p.Trp770Arg)
c.3286T>A (p.Trp1096Arg)
n.3104T>A
n.3312T>A
1g.197435014T>CCA344046079CRB1c.3151T>C (p.Trp1051Arg)
c.2032T>C (p.Trp678Arg)
c.1294T>C (p.Trp432Arg)
c.2815T>C (p.Trp939Arg)
c.3079T>C (p.Trp1027Arg)
c.2129-586T>C (n.2129-586T>C)
n.3152T>C
n.3360T>C
c.2569T>C (p.Trp857Arg)
c.1594T>C (p.Trp532Arg)
c.2308T>C (p.Trp770Arg)
c.3286T>C (p.Trp1096Arg)
n.3104T>C
n.3312T>C
1g.197435014T>GCA344046081CRB1c.3151T>G (p.Trp1051Gly)
c.2032T>G (p.Trp678Gly)
c.1294T>G (p.Trp432Gly)
c.2815T>G (p.Trp939Gly)
c.3079T>G (p.Trp1027Gly)
c.2129-586T>G (n.2129-586T>G)
n.3152T>G
n.3360T>G
c.2569T>G (p.Trp857Gly)
c.1594T>G (p.Trp532Gly)
c.2308T>G (p.Trp770Gly)
c.3286T>G (p.Trp1096Gly)
n.3104T>G
n.3312T>G
1g.197435015G>ACA344046087CRB1c.3152G>A (p.Trp1051Ter)
c.2033G>A (p.Trp678Ter)
c.1295G>A (p.Trp432Ter)
c.2816G>A (p.Trp939Ter)
c.3080G>A (p.Trp1027Ter)
c.2129-585G>A (n.2129-585G>A)
n.3153G>A
n.3361G>A
c.2570G>A (p.Trp857Ter)
c.1595G>A (p.Trp532Ter)
c.2309G>A (p.Trp770Ter)
c.3287G>A (p.Trp1096Ter)
n.3105G>A
n.3313G>A
 ClinVar dbSNP gnomAD v4
1g.197435015G>CCA344046092CRB1c.3152G>C (p.Trp1051Ser)
c.2033G>C (p.Trp678Ser)
c.1295G>C (p.Trp432Ser)
c.2816G>C (p.Trp939Ser)
c.3080G>C (p.Trp1027Ser)
c.2129-585G>C (n.2129-585G>C)
n.3153G>C
n.3361G>C
c.2570G>C (p.Trp857Ser)
c.1595G>C (p.Trp532Ser)
c.2309G>C (p.Trp770Ser)
c.3287G>C (p.Trp1096Ser)
n.3105G>C
n.3313G>C
 gnomAD v4
1g.197435015G=CA1218068762CRB1c.3152G= (p.Trp1051=)
c.2033G= (p.Trp678=)
c.1295G= (p.Trp432=)
c.2816G= (p.Trp939=)
c.3080G= (p.Trp1027=)
c.2129-585G= (n.2129-585G=)
n.3153G=
n.3361G=
c.2570G= (p.Trp857=)
c.1595G= (p.Trp532=)
c.2309G= (p.Trp770=)
c.3287G= (p.Trp1096=)
n.3105G=
n.3313G=
1g.197435015G>TCA344046096CRB1c.3152G>T (p.Trp1051Leu)
c.2033G>T (p.Trp678Leu)
c.1295G>T (p.Trp432Leu)
c.2816G>T (p.Trp939Leu)
c.3080G>T (p.Trp1027Leu)
c.2129-585G>T (n.2129-585G>T)
n.3153G>T
n.3361G>T
c.2570G>T (p.Trp857Leu)
c.1595G>T (p.Trp532Leu)
c.2309G>T (p.Trp770Leu)
c.3287G>T (p.Trp1096Leu)
n.3105G>T
n.3313G>T
1g.197435016G>ACA344046113CRB1c.3153G>A (p.Trp1051Ter)
c.2034G>A (p.Trp678Ter)
c.1296G>A (p.Trp432Ter)
c.2817G>A (p.Trp939Ter)
c.3081G>A (p.Trp1027Ter)
c.2129-584G>A (n.2129-584G>A)
n.3154G>A
n.3362G>A
c.2571G>A (p.Trp857Ter)
c.1596G>A (p.Trp532Ter)
c.2310G>A (p.Trp770Ter)
c.3288G>A (p.Trp1096Ter)
n.3106G>A
n.3314G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435016G>CCA344046125CRB1c.3153G>C (p.Trp1051Cys)
c.2034G>C (p.Trp678Cys)
c.1296G>C (p.Trp432Cys)
c.2817G>C (p.Trp939Cys)
c.3081G>C (p.Trp1027Cys)
c.2129-584G>C (n.2129-584G>C)
n.3154G>C
n.3362G>C
c.2571G>C (p.Trp857Cys)
c.1596G>C (p.Trp532Cys)
c.2310G>C (p.Trp770Cys)
c.3288G>C (p.Trp1096Cys)
n.3106G>C
n.3314G>C
1g.197435016G=CA1218068763CRB1c.3153G= (p.Trp1051=)
c.2034G= (p.Trp678=)
c.1296G= (p.Trp432=)
c.2817G= (p.Trp939=)
c.3081G= (p.Trp1027=)
c.2129-584G= (n.2129-584G=)
n.3154G=
n.3362G=
c.2571G= (p.Trp857=)
c.1596G= (p.Trp532=)
c.2310G= (p.Trp770=)
c.3288G= (p.Trp1096=)
n.3106G=
n.3314G=
1g.197435016G>TCA344046127CRB1c.3153G>T (p.Trp1051Cys)
c.2034G>T (p.Trp678Cys)
c.1296G>T (p.Trp432Cys)
c.2817G>T (p.Trp939Cys)
c.3081G>T (p.Trp1027Cys)
c.2129-584G>T (n.2129-584G>T)
n.3154G>T
n.3362G>T
c.2571G>T (p.Trp857Cys)
c.1596G>T (p.Trp532Cys)
c.2310G>T (p.Trp770Cys)
c.3288G>T (p.Trp1096Cys)
n.3106G>T
n.3314G>T
1g.197435017C>ACA344046138CRB1c.3154C>A (p.Gln1052Lys)
c.2035C>A (p.Gln679Lys)
c.1297C>A (p.Gln433Lys)
c.2818C>A (p.Gln940Lys)
c.3082C>A (p.Gln1028Lys)
c.2129-583C>A (n.2129-583C>A)
n.3155C>A
n.3363C>A
c.2572C>A (p.Gln858Lys)
c.1597C>A (p.Gln533Lys)
c.2311C>A (p.Gln771Lys)
c.3289C>A (p.Gln1097Lys)
n.3107C>A
n.3315C>A
1g.197435017C>GCA344046141CRB1c.3154C>G (p.Gln1052Glu)
c.2035C>G (p.Gln679Glu)
c.1297C>G (p.Gln433Glu)
c.2818C>G (p.Gln940Glu)
c.3082C>G (p.Gln1028Glu)
c.2129-583C>G (n.2129-583C>G)
n.3155C>G
n.3363C>G
c.2572C>G (p.Gln858Glu)
c.1597C>G (p.Gln533Glu)
c.2311C>G (p.Gln771Glu)
c.3289C>G (p.Gln1097Glu)
n.3107C>G
n.3315C>G
1g.197435017C>TCA344046145CRB1c.3154C>T (p.Gln1052Ter)
c.2035C>T (p.Gln679Ter)
c.1297C>T (p.Gln433Ter)
c.2818C>T (p.Gln940Ter)
c.3082C>T (p.Gln1028Ter)
c.2129-583C>T (n.2129-583C>T)
n.3155C>T
n.3363C>T
c.2572C>T (p.Gln858Ter)
c.1597C>T (p.Gln533Ter)
c.2311C>T (p.Gln771Ter)
c.3289C>T (p.Gln1097Ter)
n.3107C>T
n.3315C>T
1g.197435018A=CA1142076694CRB1c.3155A= (p.Gln1052=)
c.2036A= (p.Gln679=)
c.1298A= (p.Gln433=)
c.2819A= (p.Gln940=)
c.3083A= (p.Gln1028=)
c.2129-582A= (n.2129-582A=)
n.3156A=
n.3364A=
c.2573A= (p.Gln858=)
c.1598A= (p.Gln533=)
c.2312A= (p.Gln771=)
c.3290A= (p.Gln1097=)
n.3108A=
n.3316A=
1g.197435018A>CCA344046167CRB1c.3155A>C (p.Gln1052Pro)
c.2036A>C (p.Gln679Pro)
c.1298A>C (p.Gln433Pro)
c.2819A>C (p.Gln940Pro)
c.3083A>C (p.Gln1028Pro)
c.2129-582A>C (n.2129-582A>C)
n.3156A>C
n.3364A>C
c.2573A>C (p.Gln858Pro)
c.1598A>C (p.Gln533Pro)
c.2312A>C (p.Gln771Pro)
c.3290A>C (p.Gln1097Pro)
n.3108A>C
n.3316A>C
1g.197435018A>GCA35907060CRB1c.3155A>G (p.Gln1052Arg)
c.2036A>G (p.Gln679Arg)
c.1298A>G (p.Gln433Arg)
c.2819A>G (p.Gln940Arg)
c.3083A>G (p.Gln1028Arg)
c.2129-582A>G (n.2129-582A>G)
n.3156A>G
n.3364A>G
c.2573A>G (p.Gln858Arg)
c.1598A>G (p.Gln533Arg)
c.2312A>G (p.Gln771Arg)
c.3290A>G (p.Gln1097Arg)
n.3108A>G
n.3316A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435018A>TCA344046151CRB1c.3155A>T (p.Gln1052Leu)
c.2036A>T (p.Gln679Leu)
c.1298A>T (p.Gln433Leu)
c.2819A>T (p.Gln940Leu)
c.3083A>T (p.Gln1028Leu)
c.2129-582A>T (n.2129-582A>T)
n.3156A>T
n.3364A>T
c.2573A>T (p.Gln858Leu)
c.1598A>T (p.Gln533Leu)
c.2312A>T (p.Gln771Leu)
c.3290A>T (p.Gln1097Leu)
n.3108A>T
n.3316A>T
1g.197435019A>CCA344046169CRB1c.3156A>C (p.Gln1052His)
c.2037A>C (p.Gln679His)
c.1299A>C (p.Gln433His)
c.2820A>C (p.Gln940His)
c.3084A>C (p.Gln1028His)
c.2129-581A>C (n.2129-581A>C)
n.3157A>C
n.3365A>C
c.2574A>C (p.Gln858His)
c.1599A>C (p.Gln533His)
c.2313A>C (p.Gln771His)
c.3291A>C (p.Gln1097His)
n.3109A>C
n.3317A>C
1g.197435019A>GCA422809049CRB1c.3156A>G (p.Gln1052=)
c.2037A>G (p.Gln679=)
c.1299A>G (p.Gln433=)
c.2820A>G (p.Gln940=)
c.3084A>G (p.Gln1028=)
c.2129-581A>G (n.2129-581A>G)
n.3157A>G
n.3365A>G
c.2574A>G (p.Gln858=)
c.1599A>G (p.Gln533=)
c.2313A>G (p.Gln771=)
c.3291A>G (p.Gln1097=)
n.3109A>G
n.3317A>G
1g.197435019A>TCA344046175CRB1c.3156A>T (p.Gln1052His)
c.2037A>T (p.Gln679His)
c.1299A>T (p.Gln433His)
c.2820A>T (p.Gln940His)
c.3084A>T (p.Gln1028His)
c.2129-581A>T (n.2129-581A>T)
n.3157A>T
n.3365A>T
c.2574A>T (p.Gln858His)
c.1599A>T (p.Gln533His)
c.2313A>T (p.Gln771His)
c.3291A>T (p.Gln1097His)
n.3109A>T
n.3317A>T
1g.197435020A=CA1218068764CRB1c.3157A= (p.Met1053=)
c.2038A= (p.Met680=)
c.1300A= (p.Met434=)
c.2821A= (p.Met941=)
c.3085A= (p.Met1029=)
c.2129-580A= (n.2129-580A=)
n.3158A=
n.3366A=
c.2575A= (p.Met859=)
c.1600A= (p.Met534=)
c.2314A= (p.Met772=)
c.3292A= (p.Met1098=)
n.3110A=
n.3318A=
1g.197435020A>CCA344046186CRB1c.3157A>C (p.Met1053Leu)
c.2038A>C (p.Met680Leu)
c.1300A>C (p.Met434Leu)
c.2821A>C (p.Met941Leu)
c.3085A>C (p.Met1029Leu)
c.2129-580A>C (n.2129-580A>C)
n.3158A>C
n.3366A>C
c.2575A>C (p.Met859Leu)
c.1600A>C (p.Met534Leu)
c.2314A>C (p.Met772Leu)
c.3292A>C (p.Met1098Leu)
n.3110A>C
n.3318A>C
1g.197435020A>GCA1312284CRB1c.3157A>G (p.Met1053Val)
c.2038A>G (p.Met680Val)
c.1300A>G (p.Met434Val)
c.2821A>G (p.Met941Val)
c.3085A>G (p.Met1029Val)
c.2129-580A>G (n.2129-580A>G)
n.3158A>G
n.3366A>G
c.2575A>G (p.Met859Val)
c.1600A>G (p.Met534Val)
c.2314A>G (p.Met772Val)
c.3292A>G (p.Met1098Val)
n.3110A>G
n.3318A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435020A>TCA344046188CRB1c.3157A>T (p.Met1053Leu)
c.2038A>T (p.Met680Leu)
c.1300A>T (p.Met434Leu)
c.2821A>T (p.Met941Leu)
c.3085A>T (p.Met1029Leu)
c.2129-580A>T (n.2129-580A>T)
n.3158A>T
n.3366A>T
c.2575A>T (p.Met859Leu)
c.1600A>T (p.Met534Leu)
c.2314A>T (p.Met772Leu)
c.3292A>T (p.Met1098Leu)
n.3110A>T
n.3318A>T
1g.197435021T>ACA344046192CRB1c.3158T>A (p.Met1053Lys)
c.2039T>A (p.Met680Lys)
c.1301T>A (p.Met434Lys)
c.2822T>A (p.Met941Lys)
c.3086T>A (p.Met1029Lys)
c.2129-579T>A (n.2129-579T>A)
n.3159T>A
n.3367T>A
c.2576T>A (p.Met859Lys)
c.1601T>A (p.Met534Lys)
c.2315T>A (p.Met772Lys)
c.3293T>A (p.Met1098Lys)
n.3111T>A
n.3319T>A
1g.197435021T>CCA344046193CRB1c.3158T>C (p.Met1053Thr)
c.2039T>C (p.Met680Thr)
c.1301T>C (p.Met434Thr)
c.2822T>C (p.Met941Thr)
c.3086T>C (p.Met1029Thr)
c.2129-579T>C (n.2129-579T>C)
n.3159T>C
n.3367T>C
c.2576T>C (p.Met859Thr)
c.1601T>C (p.Met534Thr)
c.2315T>C (p.Met772Thr)
c.3293T>C (p.Met1098Thr)
n.3111T>C
n.3319T>C
 gnomAD v4
1g.197435021T>GCA344046195CRB1c.3158T>G (p.Met1053Arg)
c.2039T>G (p.Met680Arg)
c.1301T>G (p.Met434Arg)
c.2822T>G (p.Met941Arg)
c.3086T>G (p.Met1029Arg)
c.2129-579T>G (n.2129-579T>G)
n.3159T>G
n.3367T>G
c.2576T>G (p.Met859Arg)
c.1601T>G (p.Met534Arg)
c.2315T>G (p.Met772Arg)
c.3293T>G (p.Met1098Arg)
n.3111T>G
n.3319T>G
1g.197435022G>ACA344046197CRB1c.3159G>A (p.Met1053Ile)
c.2040G>A (p.Met680Ile)
c.1302G>A (p.Met434Ile)
c.2823G>A (p.Met941Ile)
c.3087G>A (p.Met1029Ile)
c.2129-578G>A (n.2129-578G>A)
n.3160G>A
n.3368G>A
c.2577G>A (p.Met859Ile)
c.1602G>A (p.Met534Ile)
c.2316G>A (p.Met772Ile)
c.3294G>A (p.Met1098Ile)
n.3112G>A
n.3320G>A
1g.197435022G>CCA344046199CRB1c.3159G>C (p.Met1053Ile)
c.2040G>C (p.Met680Ile)
c.1302G>C (p.Met434Ile)
c.2823G>C (p.Met941Ile)
c.3087G>C (p.Met1029Ile)
c.2129-578G>C (n.2129-578G>C)
n.3160G>C
n.3368G>C
c.2577G>C (p.Met859Ile)
c.1602G>C (p.Met534Ile)
c.2316G>C (p.Met772Ile)
c.3294G>C (p.Met1098Ile)
n.3112G>C
n.3320G>C
1g.197435022G>TCA344046201CRB1c.3159G>T (p.Met1053Ile)
c.2040G>T (p.Met680Ile)
c.1302G>T (p.Met434Ile)
c.2823G>T (p.Met941Ile)
c.3087G>T (p.Met1029Ile)
c.2129-578G>T (n.2129-578G>T)
n.3160G>T
n.3368G>T
c.2577G>T (p.Met859Ile)
c.1602G>T (p.Met534Ile)
c.2316G>T (p.Met772Ile)
c.3294G>T (p.Met1098Ile)
n.3112G>T
n.3320G>T
 gnomAD v4
1g.197435023G>ACA344046206CRB1c.3160G>A (p.Glu1054Lys)
c.2041G>A (p.Glu681Lys)
c.1303G>A (p.Glu435Lys)
c.2824G>A (p.Glu942Lys)
c.3088G>A (p.Glu1030Lys)
c.2129-577G>A (n.2129-577G>A)
n.3161G>A
n.3369G>A
c.2578G>A (p.Glu860Lys)
c.1603G>A (p.Glu535Lys)
c.2317G>A (p.Glu773Lys)
c.3295G>A (p.Glu1099Lys)
n.3113G>A
n.3321G>A
1g.197435023G>CCA35907069CRB1c.3160G>C (p.Glu1054Gln)
c.2041G>C (p.Glu681Gln)
c.1303G>C (p.Glu435Gln)
c.2824G>C (p.Glu942Gln)
c.3088G>C (p.Glu1030Gln)
c.2129-577G>C (n.2129-577G>C)
n.3161G>C
n.3369G>C
c.2578G>C (p.Glu860Gln)
c.1603G>C (p.Glu535Gln)
c.2317G>C (p.Glu773Gln)
c.3295G>C (p.Glu1099Gln)
n.3113G>C
n.3321G>C
 dbSNP
1g.197435023G=CA1218068765CRB1c.3160G= (p.Glu1054=)
c.2041G= (p.Glu681=)
c.1303G= (p.Glu435=)
c.2824G= (p.Glu942=)
c.3088G= (p.Glu1030=)
c.2129-577G= (n.2129-577G=)
n.3161G=
n.3369G=
c.2578G= (p.Glu860=)
c.1603G= (p.Glu535=)
c.2317G= (p.Glu773=)
c.3295G= (p.Glu1099=)
n.3113G=
n.3321G=
1g.197435023G>TCA344046203CRB1c.3160G>T (p.Glu1054Ter)
c.2041G>T (p.Glu681Ter)
c.1303G>T (p.Glu435Ter)
c.2824G>T (p.Glu942Ter)
c.3088G>T (p.Glu1030Ter)
c.2129-577G>T (n.2129-577G>T)
n.3161G>T
n.3369G>T
c.2578G>T (p.Glu860Ter)
c.1603G>T (p.Glu535Ter)
c.2317G>T (p.Glu773Ter)
c.3295G>T (p.Glu1099Ter)
n.3113G>T
n.3321G>T
1g.197435024A=CA1218068766CRB1c.3161A= (p.Glu1054=)
c.2042A= (p.Glu681=)
c.1304A= (p.Glu435=)
c.2825A= (p.Glu942=)
c.3089A= (p.Glu1030=)
c.2129-576A= (n.2129-576A=)
n.3162A=
n.3370A=
c.2579A= (p.Glu860=)
c.1604A= (p.Glu535=)
c.2318A= (p.Glu773=)
c.3296A= (p.Glu1099=)
n.3114A=
n.3322A=
1g.197435024A>CCA344046209CRB1c.3161A>C (p.Glu1054Ala)
c.2042A>C (p.Glu681Ala)
c.1304A>C (p.Glu435Ala)
c.2825A>C (p.Glu942Ala)
c.3089A>C (p.Glu1030Ala)
c.2129-576A>C (n.2129-576A>C)
n.3162A>C
n.3370A>C
c.2579A>C (p.Glu860Ala)
c.1604A>C (p.Glu535Ala)
c.2318A>C (p.Glu773Ala)
c.3296A>C (p.Glu1099Ala)
n.3114A>C
n.3322A>C
1g.197435024A>GCA344046225CRB1c.3161A>G (p.Glu1054Gly)
c.2042A>G (p.Glu681Gly)
c.1304A>G (p.Glu435Gly)
c.2825A>G (p.Glu942Gly)
c.3089A>G (p.Glu1030Gly)
c.2129-576A>G (n.2129-576A>G)
n.3162A>G
n.3370A>G
c.2579A>G (p.Glu860Gly)
c.1604A>G (p.Glu535Gly)
c.2318A>G (p.Glu773Gly)
c.3296A>G (p.Glu1099Gly)
n.3114A>G
n.3322A>G
1g.197435024A>TCA35907081CRB1c.3161A>T (p.Glu1054Val)
c.2042A>T (p.Glu681Val)
c.1304A>T (p.Glu435Val)
c.2825A>T (p.Glu942Val)
c.3089A>T (p.Glu1030Val)
c.2129-576A>T (n.2129-576A>T)
n.3162A>T
n.3370A>T
c.2579A>T (p.Glu860Val)
c.1604A>T (p.Glu535Val)
c.2318A>T (p.Glu773Val)
c.3296A>T (p.Glu1099Val)
n.3114A>T
n.3322A>T
 dbSNP gnomAD v4
1g.197435025A>CCA344046229CRB1c.3162A>C (p.Glu1054Asp)
c.2043A>C (p.Glu681Asp)
c.1305A>C (p.Glu435Asp)
c.2826A>C (p.Glu942Asp)
c.3090A>C (p.Glu1030Asp)
c.2129-575A>C (n.2129-575A>C)
n.3163A>C
n.3371A>C
c.2580A>C (p.Glu860Asp)
c.1605A>C (p.Glu535Asp)
c.2319A>C (p.Glu773Asp)
c.3297A>C (p.Glu1099Asp)
n.3115A>C
n.3323A>C
1g.197435025A>GCA422809067CRB1c.3162A>G (p.Glu1054=)
c.2043A>G (p.Glu681=)
c.1305A>G (p.Glu435=)
c.2826A>G (p.Glu942=)
c.3090A>G (p.Glu1030=)
c.2129-575A>G (n.2129-575A>G)
n.3163A>G
n.3371A>G
c.2580A>G (p.Glu860=)
c.1605A>G (p.Glu535=)
c.2319A>G (p.Glu773=)
c.3297A>G (p.Glu1099=)
n.3115A>G
n.3323A>G
1g.197435025A>TCA344046230CRB1c.3162A>T (p.Glu1054Asp)
c.2043A>T (p.Glu681Asp)
c.1305A>T (p.Glu435Asp)
c.2826A>T (p.Glu942Asp)
c.3090A>T (p.Glu1030Asp)
c.2129-575A>T (n.2129-575A>T)
n.3163A>T
n.3371A>T
c.2580A>T (p.Glu860Asp)
c.1605A>T (p.Glu535Asp)
c.2319A>T (p.Glu773Asp)
c.3297A>T (p.Glu1099Asp)
n.3115A>T
n.3323A>T
1g.197435026G>ACA344046232CRB1c.3163G>A (p.Val1055Met)
c.2044G>A (p.Val682Met)
c.1306G>A (p.Val436Met)
c.2827G>A (p.Val943Met)
c.3091G>A (p.Val1031Met)
c.2129-574G>A (n.2129-574G>A)
n.3164G>A
n.3372G>A
c.2581G>A (p.Val861Met)
c.1606G>A (p.Val536Met)
c.2320G>A (p.Val774Met)
c.3298G>A (p.Val1100Met)
n.3116G>A
n.3324G>A
1g.197435026G>CCA344046235CRB1c.3163G>C (p.Val1055Leu)
c.2044G>C (p.Val682Leu)
c.1306G>C (p.Val436Leu)
c.2827G>C (p.Val943Leu)
c.3091G>C (p.Val1031Leu)
c.2129-574G>C (n.2129-574G>C)
n.3164G>C
n.3372G>C
c.2581G>C (p.Val861Leu)
c.1606G>C (p.Val536Leu)
c.2320G>C (p.Val774Leu)
c.3298G>C (p.Val1100Leu)
n.3116G>C
n.3324G>C
 ClinVar
1g.197435026G>TCA344046243CRB1c.3163G>T (p.Val1055Leu)
c.2044G>T (p.Val682Leu)
c.1306G>T (p.Val436Leu)
c.2827G>T (p.Val943Leu)
c.3091G>T (p.Val1031Leu)
c.2129-574G>T (n.2129-574G>T)
n.3164G>T
n.3372G>T
c.2581G>T (p.Val861Leu)
c.1606G>T (p.Val536Leu)
c.2320G>T (p.Val774Leu)
c.3298G>T (p.Val1100Leu)
n.3116G>T
n.3324G>T
1g.197435027T>ACA344046256CRB1c.3164T>A (p.Val1055Glu)
c.2045T>A (p.Val682Glu)
c.1307T>A (p.Val436Glu)
c.2828T>A (p.Val943Glu)
c.3092T>A (p.Val1031Glu)
c.2129-573T>A (n.2129-573T>A)
n.3165T>A
n.3373T>A
c.2582T>A (p.Val861Glu)
c.1607T>A (p.Val536Glu)
c.2321T>A (p.Val774Glu)
c.3299T>A (p.Val1100Glu)
n.3117T>A
n.3325T>A
 ClinVar dbSNP
1g.197435027T>CCA344046257CRB1c.3164T>C (p.Val1055Ala)
c.2045T>C (p.Val682Ala)
c.1307T>C (p.Val436Ala)
c.2828T>C (p.Val943Ala)
c.3092T>C (p.Val1031Ala)
c.2129-573T>C (n.2129-573T>C)
n.3165T>C
n.3373T>C
c.2582T>C (p.Val861Ala)
c.1607T>C (p.Val536Ala)
c.2321T>C (p.Val774Ala)
c.3299T>C (p.Val1100Ala)
n.3117T>C
n.3325T>C
1g.197435027T>GCA344046260CRB1c.3164T>G (p.Val1055Gly)
c.2045T>G (p.Val682Gly)
c.1307T>G (p.Val436Gly)
c.2828T>G (p.Val943Gly)
c.3092T>G (p.Val1031Gly)
c.2129-573T>G (n.2129-573T>G)
n.3165T>G
n.3373T>G
c.2582T>G (p.Val861Gly)
c.1607T>G (p.Val536Gly)
c.2321T>G (p.Val774Gly)
c.3299T>G (p.Val1100Gly)
n.3117T>G
n.3325T>G
1g.197435027T=CA1218068767CRB1c.3164T= (p.Val1055=)
c.2045T= (p.Val682=)
c.1307T= (p.Val436=)
c.2828T= (p.Val943=)
c.3092T= (p.Val1031=)
c.2129-573T= (n.2129-573T=)
n.3165T=
n.3373T=
c.2582T= (p.Val861=)
c.1607T= (p.Val536=)
c.2321T= (p.Val774=)
c.3299T= (p.Val1100=)
n.3117T=
n.3325T=
1g.197435028G>ACA422809073CRB1c.3165G>A (p.Val1055=)
c.2046G>A (p.Val682=)
c.1308G>A (p.Val436=)
c.2829G>A (p.Val943=)
c.3093G>A (p.Val1031=)
c.2129-572G>A (n.2129-572G>A)
n.3166G>A
n.3374G>A
c.2583G>A (p.Val861=)
c.1608G>A (p.Val536=)
c.2322G>A (p.Val774=)
c.3300G>A (p.Val1100=)
n.3118G>A
n.3326G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435028G>CCA422809075CRB1c.3165G>C (p.Val1055=)
c.2046G>C (p.Val682=)
c.1308G>C (p.Val436=)
c.2829G>C (p.Val943=)
c.3093G>C (p.Val1031=)
c.2129-572G>C (n.2129-572G>C)
n.3166G>C
n.3374G>C
c.2583G>C (p.Val861=)
c.1608G>C (p.Val536=)
c.2322G>C (p.Val774=)
c.3300G>C (p.Val1100=)
n.3118G>C
n.3326G>C
1g.197435028G=CA1218068768CRB1c.3165G= (p.Val1055=)
c.2046G= (p.Val682=)
c.1308G= (p.Val436=)
c.2829G= (p.Val943=)
c.3093G= (p.Val1031=)
c.2129-572G= (n.2129-572G=)
n.3166G=
n.3374G=
c.2583G= (p.Val861=)
c.1608G= (p.Val536=)
c.2322G= (p.Val774=)
c.3300G= (p.Val1100=)
n.3118G=
n.3326G=
1g.197435028G>TCA422809077CRB1c.3165G>T (p.Val1055=)
c.2046G>T (p.Val682=)
c.1308G>T (p.Val436=)
c.2829G>T (p.Val943=)
c.3093G>T (p.Val1031=)
c.2129-572G>T (n.2129-572G>T)
n.3166G>T
n.3374G>T
c.2583G>T (p.Val861=)
c.1608G>T (p.Val536=)
c.2322G>T (p.Val774=)
c.3300G>T (p.Val1100=)
n.3118G>T
n.3326G>T
1g.197435029G>ACA344046264CRB1c.3166G>A (p.Asp1056Asn)
c.2047G>A (p.Asp683Asn)
c.1309G>A (p.Asp437Asn)
c.2830G>A (p.Asp944Asn)
c.3094G>A (p.Asp1032Asn)
c.2129-571G>A (n.2129-571G>A)
n.3167G>A
n.3375G>A
c.2584G>A (p.Asp862Asn)
c.1609G>A (p.Asp537Asn)
c.2323G>A (p.Asp775Asn)
c.3301G>A (p.Asp1101Asn)
n.3119G>A
n.3327G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.197435029G>CCA344046268CRB1c.3166G>C (p.Asp1056His)
c.2047G>C (p.Asp683His)
c.1309G>C (p.Asp437His)
c.2830G>C (p.Asp944His)
c.3094G>C (p.Asp1032His)
c.2129-571G>C (n.2129-571G>C)
n.3167G>C
n.3375G>C
c.2584G>C (p.Asp862His)
c.1609G>C (p.Asp537His)
c.2323G>C (p.Asp775His)
c.3301G>C (p.Asp1101His)
n.3119G>C
n.3327G>C
 ClinVar
1g.197435029G=CA1148224938CRB1c.3166G= (p.Asp1056=)
c.2047G= (p.Asp683=)
c.1309G= (p.Asp437=)
c.2830G= (p.Asp944=)
c.3094G= (p.Asp1032=)
c.2129-571G= (n.2129-571G=)
n.3167G=
n.3375G=
c.2584G= (p.Asp862=)
c.1609G= (p.Asp537=)
c.2323G= (p.Asp775=)
c.3301G= (p.Asp1101=)
n.3119G=
n.3327G=
1g.197435029G>TCA233863CRB1c.3166G>T (p.Asp1056Tyr)
c.2047G>T (p.Asp683Tyr)
c.1309G>T (p.Asp437Tyr)
c.2830G>T (p.Asp944Tyr)
c.3094G>T (p.Asp1032Tyr)
c.2129-571G>T (n.2129-571G>T)
n.3167G>T
n.3375G>T
c.2584G>T (p.Asp862Tyr)
c.1609G>T (p.Asp537Tyr)
c.2323G>T (p.Asp775Tyr)
c.3301G>T (p.Asp1101Tyr)
n.3119G>T
n.3327G>T
 ClinVar dbSNP
1g.197435030A>CCA344046282CRB1c.3167A>C (p.Asp1056Ala)
c.2048A>C (p.Asp683Ala)
c.1310A>C (p.Asp437Ala)
c.2831A>C (p.Asp944Ala)
c.3095A>C (p.Asp1032Ala)
c.2129-570A>C (n.2129-570A>C)
n.3168A>C
n.3376A>C
c.2585A>C (p.Asp862Ala)
c.1610A>C (p.Asp537Ala)
c.2324A>C (p.Asp775Ala)
c.3302A>C (p.Asp1101Ala)
n.3120A>C
n.3328A>C
 gnomAD v4
1g.197435030A>GCA344046290CRB1c.3167A>G (p.Asp1056Gly)
c.2048A>G (p.Asp683Gly)
c.1310A>G (p.Asp437Gly)
c.2831A>G (p.Asp944Gly)
c.3095A>G (p.Asp1032Gly)
c.2129-570A>G (n.2129-570A>G)
n.3168A>G
n.3376A>G
c.2585A>G (p.Asp862Gly)
c.1610A>G (p.Asp537Gly)
c.2324A>G (p.Asp775Gly)
c.3302A>G (p.Asp1101Gly)
n.3120A>G
n.3328A>G
1g.197435030A>TCA344046293CRB1c.3167A>T (p.Asp1056Val)
c.2048A>T (p.Asp683Val)
c.1310A>T (p.Asp437Val)
c.2831A>T (p.Asp944Val)
c.3095A>T (p.Asp1032Val)
c.2129-570A>T (n.2129-570A>T)
n.3168A>T
n.3376A>T
c.2585A>T (p.Asp862Val)
c.1610A>T (p.Asp537Val)
c.2324A>T (p.Asp775Val)
c.3302A>T (p.Asp1101Val)
n.3120A>T
n.3328A>T
1g.197435031C>ACA344046294CRB1c.3168C>A (p.Asp1056Glu)
c.2049C>A (p.Asp683Glu)
c.1311C>A (p.Asp437Glu)
c.2832C>A (p.Asp944Glu)
c.3096C>A (p.Asp1032Glu)
c.2129-569C>A (n.2129-569C>A)
n.3169C>A
n.3377C>A
c.2586C>A (p.Asp862Glu)
c.1611C>A (p.Asp537Glu)
c.2325C>A (p.Asp775Glu)
c.3303C>A (p.Asp1101Glu)
n.3121C>A
n.3329C>A
 gnomAD v4
1g.197435031C=CA1218068769CRB1c.3168C= (p.Asp1056=)
c.2049C= (p.Asp683=)
c.1311C= (p.Asp437=)
c.2832C= (p.Asp944=)
c.3096C= (p.Asp1032=)
c.2129-569C= (n.2129-569C=)
n.3169C=
n.3377C=
c.2586C= (p.Asp862=)
c.1611C= (p.Asp537=)
c.2325C= (p.Asp775=)
c.3303C= (p.Asp1101=)
n.3121C=
n.3329C=
1g.197435031C>GCA344046295CRB1c.3168C>G (p.Asp1056Glu)
c.2049C>G (p.Asp683Glu)
c.1311C>G (p.Asp437Glu)
c.2832C>G (p.Asp944Glu)
c.3096C>G (p.Asp1032Glu)
c.2129-569C>G (n.2129-569C>G)
n.3169C>G
n.3377C>G
c.2586C>G (p.Asp862Glu)
c.1611C>G (p.Asp537Glu)
c.2325C>G (p.Asp775Glu)
c.3303C>G (p.Asp1101Glu)
n.3121C>G
n.3329C>G
1g.197435031C>TCA422809084CRB1c.3168C>T (p.Asp1056=)
c.2049C>T (p.Asp683=)
c.1311C>T (p.Asp437=)
c.2832C>T (p.Asp944=)
c.3096C>T (p.Asp1032=)
c.2129-569C>T (n.2129-569C>T)
n.3169C>T
n.3377C>T
c.2586C>T (p.Asp862=)
c.1611C>T (p.Asp537=)
c.2325C>T (p.Asp775=)
c.3303C>T (p.Asp1101=)
n.3121C>T
n.3329C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435032A>CCA344046299CRB1c.3169A>C (p.Asn1057His)
c.2050A>C (p.Asn684His)
c.1312A>C (p.Asn438His)
c.2833A>C (p.Asn945His)
c.3097A>C (p.Asn1033His)
c.2129-568A>C (n.2129-568A>C)
n.3170A>C
n.3378A>C
c.2587A>C (p.Asn863His)
c.1612A>C (p.Asn538His)
c.2326A>C (p.Asn776His)
c.3304A>C (p.Asn1102His)
n.3122A>C
n.3330A>C
1g.197435032A>GCA344046301CRB1c.3169A>G (p.Asn1057Asp)
c.2050A>G (p.Asn684Asp)
c.1312A>G (p.Asn438Asp)
c.2833A>G (p.Asn945Asp)
c.3097A>G (p.Asn1033Asp)
c.2129-568A>G (n.2129-568A>G)
n.3170A>G
n.3378A>G
c.2587A>G (p.Asn863Asp)
c.1612A>G (p.Asn538Asp)
c.2326A>G (p.Asn776Asp)
c.3304A>G (p.Asn1102Asp)
n.3122A>G
n.3330A>G
1g.197435032A>TCA344046306CRB1c.3169A>T (p.Asn1057Tyr)
c.2050A>T (p.Asn684Tyr)
c.1312A>T (p.Asn438Tyr)
c.2833A>T (p.Asn945Tyr)
c.3097A>T (p.Asn1033Tyr)
c.2129-568A>T (n.2129-568A>T)
n.3170A>T
n.3378A>T
c.2587A>T (p.Asn863Tyr)
c.1612A>T (p.Asn538Tyr)
c.2326A>T (p.Asn776Tyr)
c.3304A>T (p.Asn1102Tyr)
n.3122A>T
n.3330A>T
1g.197435033A=CA1218068770CRB1c.3170A= (p.Asn1057=)
c.2051A= (p.Asn684=)
c.1313A= (p.Asn438=)
c.2834A= (p.Asn945=)
c.3098A= (p.Asn1033=)
c.2129-567A= (n.2129-567A=)
n.3171A=
n.3379A=
c.2588A= (p.Asn863=)
c.1613A= (p.Asn538=)
c.2327A= (p.Asn776=)
c.3305A= (p.Asn1102=)
n.3123A=
n.3331A=
1g.197435033A>CCA344046309CRB1c.3170A>C (p.Asn1057Thr)
c.2051A>C (p.Asn684Thr)
c.1313A>C (p.Asn438Thr)
c.2834A>C (p.Asn945Thr)
c.3098A>C (p.Asn1033Thr)
c.2129-567A>C (n.2129-567A>C)
n.3171A>C
n.3379A>C
c.2588A>C (p.Asn863Thr)
c.1613A>C (p.Asn538Thr)
c.2327A>C (p.Asn776Thr)
c.3305A>C (p.Asn1102Thr)
n.3123A>C
n.3331A>C
1g.197435033A>GCA344046319CRB1c.3170A>G (p.Asn1057Ser)
c.2051A>G (p.Asn684Ser)
c.1313A>G (p.Asn438Ser)
c.2834A>G (p.Asn945Ser)
c.3098A>G (p.Asn1033Ser)
c.2129-567A>G (n.2129-567A>G)
n.3171A>G
n.3379A>G
c.2588A>G (p.Asn863Ser)
c.1613A>G (p.Asn538Ser)
c.2327A>G (p.Asn776Ser)
c.3305A>G (p.Asn1102Ser)
n.3123A>G
n.3331A>G
 dbSNP
1g.197435033A>TCA344046331CRB1c.3170A>T (p.Asn1057Ile)
c.2051A>T (p.Asn684Ile)
c.1313A>T (p.Asn438Ile)
c.2834A>T (p.Asn945Ile)
c.3098A>T (p.Asn1033Ile)
c.2129-567A>T (n.2129-567A>T)
n.3171A>T
n.3379A>T
c.2588A>T (p.Asn863Ile)
c.1613A>T (p.Asn538Ile)
c.2327A>T (p.Asn776Ile)
c.3305A>T (p.Asn1102Ile)
n.3123A>T
n.3331A>T
1g.197435034C>ACA344046335CRB1c.3171C>A (p.Asn1057Lys)
c.2052C>A (p.Asn684Lys)
c.1314C>A (p.Asn438Lys)
c.2835C>A (p.Asn945Lys)
c.3099C>A (p.Asn1033Lys)
c.2129-566C>A (n.2129-566C>A)
n.3172C>A
n.3380C>A
c.2589C>A (p.Asn863Lys)
c.1614C>A (p.Asn538Lys)
c.2328C>A (p.Asn776Lys)
c.3306C>A (p.Asn1102Lys)
n.3124C>A
n.3332C>A
1g.197435034C=CA1140762961CRB1c.3171C= (p.Asn1057=)
c.2052C= (p.Asn684=)
c.1314C= (p.Asn438=)
c.2835C= (p.Asn945=)
c.3099C= (p.Asn1033=)
c.2129-566C= (n.2129-566C=)
n.3172C=
n.3380C=
c.2589C= (p.Asn863=)
c.1614C= (p.Asn538=)
c.2328C= (p.Asn776=)
c.3306C= (p.Asn1102=)
n.3124C=
n.3332C=
1g.197435034C>GCA1312285CRB1c.3171C>G (p.Asn1057Lys)
c.2052C>G (p.Asn684Lys)
c.1314C>G (p.Asn438Lys)
c.2835C>G (p.Asn945Lys)
c.3099C>G (p.Asn1033Lys)
c.2129-566C>G (n.2129-566C>G)
n.3172C>G
n.3380C>G
c.2589C>G (p.Asn863Lys)
c.1614C>G (p.Asn538Lys)
c.2328C>G (p.Asn776Lys)
c.3306C>G (p.Asn1102Lys)
n.3124C>G
n.3332C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435034C>TCA228032CRB1c.3171C>T (p.Asn1057=)
c.2052C>T (p.Asn684=)
c.1314C>T (p.Asn438=)
c.2835C>T (p.Asn945=)
c.3099C>T (p.Asn1033=)
c.2129-566C>T (n.2129-566C>T)
n.3172C>T
n.3380C>T
c.2589C>T (p.Asn863=)
c.1614C>T (p.Asn538=)
c.2328C>T (p.Asn776=)
c.3306C>T (p.Asn1102=)
n.3124C>T
n.3332C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435035G>ACA1312286CRB1c.3172G>A (p.Glu1058Lys)
c.2053G>A (p.Glu685Lys)
c.1315G>A (p.Glu439Lys)
c.2836G>A (p.Glu946Lys)
c.3100G>A (p.Glu1034Lys)
c.2129-565G>A (n.2129-565G>A)
n.3173G>A
n.3381G>A
c.2590G>A (p.Glu864Lys)
c.1615G>A (p.Glu539Lys)
c.2329G>A (p.Glu777Lys)
c.3307G>A (p.Glu1103Lys)
n.3125G>A
n.3333G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197435035G>CCA344046343CRB1c.3172G>C (p.Glu1058Gln)
c.2053G>C (p.Glu685Gln)
c.1315G>C (p.Glu439Gln)
c.2836G>C (p.Glu946Gln)
c.3100G>C (p.Glu1034Gln)
c.2129-565G>C (n.2129-565G>C)
n.3173G>C
n.3381G>C
c.2590G>C (p.Glu864Gln)
c.1615G>C (p.Glu539Gln)
c.2329G>C (p.Glu777Gln)
c.3307G>C (p.Glu1103Gln)
n.3125G>C
n.3333G>C
1g.197435035G=CA1147092687CRB1c.3172G= (p.Glu1058=)
c.2053G= (p.Glu685=)
c.1315G= (p.Glu439=)
c.2836G= (p.Glu946=)
c.3100G= (p.Glu1034=)
c.2129-565G= (n.2129-565G=)
n.3173G=
n.3381G=
c.2590G= (p.Glu864=)
c.1615G= (p.Glu539=)
c.2329G= (p.Glu777=)
c.3307G= (p.Glu1103=)
n.3125G=
n.3333G=
1g.197435035G>TCA344046346CRB1c.3172G>T (p.Glu1058Ter)
c.2053G>T (p.Glu685Ter)
c.1315G>T (p.Glu439Ter)
c.2836G>T (p.Glu946Ter)
c.3100G>T (p.Glu1034Ter)
c.2129-565G>T (n.2129-565G>T)
n.3173G>T
n.3381G>T
c.2590G>T (p.Glu864Ter)
c.1615G>T (p.Glu539Ter)
c.2329G>T (p.Glu777Ter)
c.3307G>T (p.Glu1103Ter)
n.3125G>T
n.3333G>T
 ClinVar dbSNP
1g.197435036A=CA1144353962CRB1c.3173A= (p.Glu1058=)
c.2054A= (p.Glu685=)
c.1316A= (p.Glu439=)
c.2837A= (p.Glu946=)
c.3101A= (p.Glu1034=)
c.2129-564A= (n.2129-564A=)
n.3174A=
n.3382A=
c.2591A= (p.Glu864=)
c.1616A= (p.Glu539=)
c.2330A= (p.Glu777=)
c.3308A= (p.Glu1103=)
n.3126A=
n.3334A=
1g.197435036A>CCA344046364CRB1c.3173A>C (p.Glu1058Ala)
c.2054A>C (p.Glu685Ala)
c.1316A>C (p.Glu439Ala)
c.2837A>C (p.Glu946Ala)
c.3101A>C (p.Glu1034Ala)
c.2129-564A>C (n.2129-564A>C)
n.3174A>C
n.3382A>C
c.2591A>C (p.Glu864Ala)
c.1616A>C (p.Glu539Ala)
c.2330A>C (p.Glu777Ala)
c.3308A>C (p.Glu1103Ala)
n.3126A>C
n.3334A>C
 gnomAD v4
1g.197435036A>GCA35907090CRB1c.3173A>G (p.Glu1058Gly)
c.2054A>G (p.Glu685Gly)
c.1316A>G (p.Glu439Gly)
c.2837A>G (p.Glu946Gly)
c.3101A>G (p.Glu1034Gly)
c.2129-564A>G (n.2129-564A>G)
n.3174A>G
n.3382A>G
c.2591A>G (p.Glu864Gly)
c.1616A>G (p.Glu539Gly)
c.2330A>G (p.Glu777Gly)
c.3308A>G (p.Glu1103Gly)
n.3126A>G
n.3334A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435036A>TCA344046369CRB1c.3173A>T (p.Glu1058Val)
c.2054A>T (p.Glu685Val)
c.1316A>T (p.Glu439Val)
c.2837A>T (p.Glu946Val)
c.3101A>T (p.Glu1034Val)
c.2129-564A>T (n.2129-564A>T)
n.3174A>T
n.3382A>T
c.2591A>T (p.Glu864Val)
c.1616A>T (p.Glu539Val)
c.2330A>T (p.Glu777Val)
c.3308A>T (p.Glu1103Val)
n.3126A>T
n.3334A>T
 dbSNP
1g.197435037A>CCA344046372CRB1c.3174A>C (p.Glu1058Asp)
c.2055A>C (p.Glu685Asp)
c.1317A>C (p.Glu439Asp)
c.2838A>C (p.Glu946Asp)
c.3102A>C (p.Glu1034Asp)
c.2129-563A>C (n.2129-563A>C)
n.3175A>C
n.3383A>C
c.2592A>C (p.Glu864Asp)
c.1617A>C (p.Glu539Asp)
c.2331A>C (p.Glu777Asp)
c.3309A>C (p.Glu1103Asp)
n.3127A>C
n.3335A>C
1g.197435037A>GCA422809098CRB1c.3174A>G (p.Glu1058=)
c.2055A>G (p.Glu685=)
c.1317A>G (p.Glu439=)
c.2838A>G (p.Glu946=)
c.3102A>G (p.Glu1034=)
c.2129-563A>G (n.2129-563A>G)
n.3175A>G
n.3383A>G
c.2592A>G (p.Glu864=)
c.1617A>G (p.Glu539=)
c.2331A>G (p.Glu777=)
c.3309A>G (p.Glu1103=)
n.3127A>G
n.3335A>G
1g.197435037A>TCA344046374CRB1c.3174A>T (p.Glu1058Asp)
c.2055A>T (p.Glu685Asp)
c.1317A>T (p.Glu439Asp)
c.2838A>T (p.Glu946Asp)
c.3102A>T (p.Glu1034Asp)
c.2129-563A>T (n.2129-563A>T)
n.3175A>T
n.3383A>T
c.2592A>T (p.Glu864Asp)
c.1617A>T (p.Glu539Asp)
c.2331A>T (p.Glu777Asp)
c.3309A>T (p.Glu1103Asp)
n.3127A>T
n.3335A>T
1g.197435038A>CCA344046377CRB1c.3175A>C (p.Thr1059Pro)
c.2056A>C (p.Thr686Pro)
c.1318A>C (p.Thr440Pro)
c.2839A>C (p.Thr947Pro)
c.3103A>C (p.Thr1035Pro)
c.2129-562A>C (n.2129-562A>C)
n.3176A>C
n.3384A>C
c.2593A>C (p.Thr865Pro)
c.1618A>C (p.Thr540Pro)
c.2332A>C (p.Thr778Pro)
c.3310A>C (p.Thr1104Pro)
n.3128A>C
n.3336A>C
1g.197435038A>GCA344046397CRB1c.3175A>G (p.Thr1059Ala)
c.2056A>G (p.Thr686Ala)
c.1318A>G (p.Thr440Ala)
c.2839A>G (p.Thr947Ala)
c.3103A>G (p.Thr1035Ala)
c.2129-562A>G (n.2129-562A>G)
n.3176A>G
n.3384A>G
c.2593A>G (p.Thr865Ala)
c.1618A>G (p.Thr540Ala)
c.2332A>G (p.Thr778Ala)
c.3310A>G (p.Thr1104Ala)
n.3128A>G
n.3336A>G
1g.197435038A>TCA344046409CRB1c.3175A>T (p.Thr1059Ser)
c.2056A>T (p.Thr686Ser)
c.1318A>T (p.Thr440Ser)
c.2839A>T (p.Thr947Ser)
c.3103A>T (p.Thr1035Ser)
c.2129-562A>T (n.2129-562A>T)
n.3176A>T
n.3384A>T
c.2593A>T (p.Thr865Ser)
c.1618A>T (p.Thr540Ser)
c.2332A>T (p.Thr778Ser)
c.3310A>T (p.Thr1104Ser)
n.3128A>T
n.3336A>T
1g.197435039C>ACA344046414CRB1c.3176C>A (p.Thr1059Lys)
c.2057C>A (p.Thr686Lys)
c.1319C>A (p.Thr440Lys)
c.2840C>A (p.Thr947Lys)
c.3104C>A (p.Thr1035Lys)
c.2129-561C>A (n.2129-561C>A)
n.3177C>A
n.3385C>A
c.2594C>A (p.Thr865Lys)
c.1619C>A (p.Thr540Lys)
c.2333C>A (p.Thr778Lys)
c.3311C>A (p.Thr1104Lys)
n.3129C>A
n.3337C>A
1g.197435039C>GCA344046417CRB1c.3176C>G (p.Thr1059Arg)
c.2057C>G (p.Thr686Arg)
c.1319C>G (p.Thr440Arg)
c.2840C>G (p.Thr947Arg)
c.3104C>G (p.Thr1035Arg)
c.2129-561C>G (n.2129-561C>G)
n.3177C>G
n.3385C>G
c.2594C>G (p.Thr865Arg)
c.1619C>G (p.Thr540Arg)
c.2333C>G (p.Thr778Arg)
c.3311C>G (p.Thr1104Arg)
n.3129C>G
n.3337C>G
1g.197435039C>TCA344046427CRB1c.3176C>T (p.Thr1059Ile)
c.2057C>T (p.Thr686Ile)
c.1319C>T (p.Thr440Ile)
c.2840C>T (p.Thr947Ile)
c.3104C>T (p.Thr1035Ile)
c.2129-561C>T (n.2129-561C>T)
n.3177C>T
n.3385C>T
c.2594C>T (p.Thr865Ile)
c.1619C>T (p.Thr540Ile)
c.2333C>T (p.Thr778Ile)
c.3311C>T (p.Thr1104Ile)
n.3129C>T
n.3337C>T
1g.197435040A=CA1141407302CRB1c.3177A= (p.Thr1059=)
c.2058A= (p.Thr686=)
c.1320A= (p.Thr440=)
c.2841A= (p.Thr947=)
c.3105A= (p.Thr1035=)
c.2129-560A= (n.2129-560A=)
n.3178A=
n.3386A=
c.2595A= (p.Thr865=)
c.1620A= (p.Thr540=)
c.2334A= (p.Thr778=)
c.3312A= (p.Thr1104=)
n.3130A=
n.3338A=
1g.197435040A>CCA422809106CRB1c.3177A>C (p.Thr1059=)
c.2058A>C (p.Thr686=)
c.1320A>C (p.Thr440=)
c.2841A>C (p.Thr947=)
c.3105A>C (p.Thr1035=)
c.2129-560A>C (n.2129-560A>C)
n.3178A>C
n.3386A>C
c.2595A>C (p.Thr865=)
c.1620A>C (p.Thr540=)
c.2334A>C (p.Thr778=)
c.3312A>C (p.Thr1104=)
n.3130A>C
n.3338A>C
1g.197435040A>GCA1312287CRB1c.3177A>G (p.Thr1059=)
c.2058A>G (p.Thr686=)
c.1320A>G (p.Thr440=)
c.2841A>G (p.Thr947=)
c.3105A>G (p.Thr1035=)
c.2129-560A>G (n.2129-560A>G)
n.3178A>G
n.3386A>G
c.2595A>G (p.Thr865=)
c.1620A>G (p.Thr540=)
c.2334A>G (p.Thr778=)
c.3312A>G (p.Thr1104=)
n.3130A>G
n.3338A>G
 dbSNP ExAC gnomAD v4
1g.197435040A>TCA422809110CRB1c.3177A>T (p.Thr1059=)
c.2058A>T (p.Thr686=)
c.1320A>T (p.Thr440=)
c.2841A>T (p.Thr947=)
c.3105A>T (p.Thr1035=)
c.2129-560A>T (n.2129-560A>T)
n.3178A>T
n.3386A>T
c.2595A>T (p.Thr865=)
c.1620A>T (p.Thr540=)
c.2334A>T (p.Thr778=)
c.3312A>T (p.Thr1104=)
n.3130A>T
n.3338A>T
1g.197435041C>ACA344046439CRB1c.3178C>A (p.Pro1060Thr)
c.2059C>A (p.Pro687Thr)
c.1321C>A (p.Pro441Thr)
c.2842C>A (p.Pro948Thr)
c.3106C>A (p.Pro1036Thr)
c.2129-559C>A (n.2129-559C>A)
n.3179C>A
n.3387C>A
c.2596C>A (p.Pro866Thr)
c.1621C>A (p.Pro541Thr)
c.2335C>A (p.Pro779Thr)
c.3313C>A (p.Pro1105Thr)
n.3131C>A
n.3339C>A
1g.197435041C>GCA344046441CRB1c.3178C>G (p.Pro1060Ala)
c.2059C>G (p.Pro687Ala)
c.1321C>G (p.Pro441Ala)
c.2842C>G (p.Pro948Ala)
c.3106C>G (p.Pro1036Ala)
c.2129-559C>G (n.2129-559C>G)
n.3179C>G
n.3387C>G
c.2596C>G (p.Pro866Ala)
c.1621C>G (p.Pro541Ala)
c.2335C>G (p.Pro779Ala)
c.3313C>G (p.Pro1105Ala)
n.3131C>G
n.3339C>G
 gnomAD v4
1g.197435041C>TCA344046443CRB1c.3178C>T (p.Pro1060Ser)
c.2059C>T (p.Pro687Ser)
c.1321C>T (p.Pro441Ser)
c.2842C>T (p.Pro948Ser)
c.3106C>T (p.Pro1036Ser)
c.2129-559C>T (n.2129-559C>T)
n.3179C>T
n.3387C>T
c.2596C>T (p.Pro866Ser)
c.1621C>T (p.Pro541Ser)
c.2335C>T (p.Pro779Ser)
c.3313C>T (p.Pro1105Ser)
n.3131C>T
n.3339C>T
1g.197435042C>ACA344046456CRB1c.3179C>A (p.Pro1060His)
c.2060C>A (p.Pro687His)
c.1322C>A (p.Pro441His)
c.2843C>A (p.Pro948His)
c.3107C>A (p.Pro1036His)
c.2129-558C>A (n.2129-558C>A)
n.3180C>A
n.3388C>A
c.2597C>A (p.Pro866His)
c.1622C>A (p.Pro541His)
c.2336C>A (p.Pro779His)
c.3314C>A (p.Pro1105His)
n.3132C>A
n.3340C>A
 gnomAD v4
1g.197435042C=CA1141825531CRB1c.3179C= (p.Pro1060=)
c.2060C= (p.Pro687=)
c.1322C= (p.Pro441=)
c.2843C= (p.Pro948=)
c.3107C= (p.Pro1036=)
c.2129-558C= (n.2129-558C=)
n.3180C=
n.3388C=
c.2597C= (p.Pro866=)
c.1622C= (p.Pro541=)
c.2336C= (p.Pro779=)
c.3314C= (p.Pro1105=)
n.3132C=
n.3340C=
1g.197435042C>GCA1312289CRB1c.3179C>G (p.Pro1060Arg)
c.2060C>G (p.Pro687Arg)
c.1322C>G (p.Pro441Arg)
c.2843C>G (p.Pro948Arg)
c.3107C>G (p.Pro1036Arg)
c.2129-558C>G (n.2129-558C>G)
n.3180C>G
n.3388C>G
c.2597C>G (p.Pro866Arg)
c.1622C>G (p.Pro541Arg)
c.2336C>G (p.Pro779Arg)
c.3314C>G (p.Pro1105Arg)
n.3132C>G
n.3340C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435042C>TCA1312288CRB1c.3179C>T (p.Pro1060Leu)
c.2060C>T (p.Pro687Leu)
c.1322C>T (p.Pro441Leu)
c.2843C>T (p.Pro948Leu)
c.3107C>T (p.Pro1036Leu)
c.2129-558C>T (n.2129-558C>T)
n.3180C>T
n.3388C>T
c.2597C>T (p.Pro866Leu)
c.1622C>T (p.Pro541Leu)
c.2336C>T (p.Pro779Leu)
c.3314C>T (p.Pro1105Leu)
n.3132C>T
n.3340C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435043T>ACA422809122CRB1c.3180T>A (p.Pro1060=)
c.2061T>A (p.Pro687=)
c.1323T>A (p.Pro441=)
c.2844T>A (p.Pro948=)
c.3108T>A (p.Pro1036=)
c.2129-557T>A (n.2129-557T>A)
n.3181T>A
n.3389T>A
c.2598T>A (p.Pro866=)
c.1623T>A (p.Pro541=)
c.2337T>A (p.Pro779=)
c.3315T>A (p.Pro1105=)
n.3133T>A
n.3341T>A
1g.197435043T>CCA422809123CRB1c.3180T>C (p.Pro1060=)
c.2061T>C (p.Pro687=)
c.1323T>C (p.Pro441=)
c.2844T>C (p.Pro948=)
c.3108T>C (p.Pro1036=)
c.2129-557T>C (n.2129-557T>C)
n.3181T>C
n.3389T>C
c.2598T>C (p.Pro866=)
c.1623T>C (p.Pro541=)
c.2337T>C (p.Pro779=)
c.3315T>C (p.Pro1105=)
n.3133T>C
n.3341T>C
1g.197435043T>GCA422809124CRB1c.3180T>G (p.Pro1060=)
c.2061T>G (p.Pro687=)
c.1323T>G (p.Pro441=)
c.2844T>G (p.Pro948=)
c.3108T>G (p.Pro1036=)
c.2129-557T>G (n.2129-557T>G)
n.3181T>G
n.3389T>G
c.2598T>G (p.Pro866=)
c.1623T>G (p.Pro541=)
c.2337T>G (p.Pro779=)
c.3315T>G (p.Pro1105=)
n.3133T>G
n.3341T>G
1g.197435045_197435046dupCA2649670641CRB1c.3182_3183dup (p.Val1062LeufsTer2)
c.2063_2064dup (p.Val689LeufsTer2)
c.1325_1326dup (p.Val443LeufsTer2)
c.2846_2847dup (p.Val950LeufsTer2)
c.3110_3111dup (p.Val1038LeufsTer2)
c.2129-555_2129-554dup (n.2129-555_2129-554dup)
n.3183_3184dup
n.3391_3392dup
c.2600_2601dup (p.Val868LeufsTer2)
c.1625_1626dup (p.Val543LeufsTer2)
c.2339_2340dup (p.Val781LeufsTer2)
c.3317_3318dup (p.Val1107LeufsTer2)
n.3135_3136dup
n.3343_3344dup
 gnomAD v4
1g.197435044T>ACA344046461CRB1c.3181T>A (p.Phe1061Ile)
c.2062T>A (p.Phe688Ile)
c.1324T>A (p.Phe442Ile)
c.2845T>A (p.Phe949Ile)
c.3109T>A (p.Phe1037Ile)
c.2129-556T>A (n.2129-556T>A)
n.3182T>A
n.3390T>A
c.2599T>A (p.Phe867Ile)
c.1624T>A (p.Phe542Ile)
c.2338T>A (p.Phe780Ile)
c.3316T>A (p.Phe1106Ile)
n.3134T>A
n.3342T>A
1g.197435044T>CCA344046463CRB1c.3181T>C (p.Phe1061Leu)
c.2062T>C (p.Phe688Leu)
c.1324T>C (p.Phe442Leu)
c.2845T>C (p.Phe949Leu)
c.3109T>C (p.Phe1037Leu)
c.2129-556T>C (n.2129-556T>C)
n.3182T>C
n.3390T>C
c.2599T>C (p.Phe867Leu)
c.1624T>C (p.Phe542Leu)
c.2338T>C (p.Phe780Leu)
c.3316T>C (p.Phe1106Leu)
n.3134T>C
n.3342T>C
1g.197435044T>GCA344046464CRB1c.3181T>G (p.Phe1061Val)
c.2062T>G (p.Phe688Val)
c.1324T>G (p.Phe442Val)
c.2845T>G (p.Phe949Val)
c.3109T>G (p.Phe1037Val)
c.2129-556T>G (n.2129-556T>G)
n.3182T>G
n.3390T>G
c.2599T>G (p.Phe867Val)
c.1624T>G (p.Phe542Val)
c.2338T>G (p.Phe780Val)
c.3316T>G (p.Phe1106Val)
n.3134T>G
n.3342T>G
1g.197435045T>ACA344046465CRB1c.3182T>A (p.Phe1061Tyr)
c.2063T>A (p.Phe688Tyr)
c.1325T>A (p.Phe442Tyr)
c.2846T>A (p.Phe949Tyr)
c.3110T>A (p.Phe1037Tyr)
c.2129-555T>A (n.2129-555T>A)
n.3183T>A
n.3391T>A
c.2600T>A (p.Phe867Tyr)
c.1625T>A (p.Phe542Tyr)
c.2339T>A (p.Phe780Tyr)
c.3317T>A (p.Phe1106Tyr)
n.3135T>A
n.3343T>A
1g.197435045T>CCA344046468CRB1c.3182T>C (p.Phe1061Ser)
c.2063T>C (p.Phe688Ser)
c.1325T>C (p.Phe442Ser)
c.2846T>C (p.Phe949Ser)
c.3110T>C (p.Phe1037Ser)
c.2129-555T>C (n.2129-555T>C)
n.3183T>C
n.3391T>C
c.2600T>C (p.Phe867Ser)
c.1625T>C (p.Phe542Ser)
c.2339T>C (p.Phe780Ser)
c.3317T>C (p.Phe1106Ser)
n.3135T>C
n.3343T>C
1g.197435045T>GCA344046473CRB1c.3182T>G (p.Phe1061Cys)
c.2063T>G (p.Phe688Cys)
c.1325T>G (p.Phe442Cys)
c.2846T>G (p.Phe949Cys)
c.3110T>G (p.Phe1037Cys)
c.2129-555T>G (n.2129-555T>G)
n.3183T>G
n.3391T>G
c.2600T>G (p.Phe867Cys)
c.1625T>G (p.Phe542Cys)
c.2339T>G (p.Phe780Cys)
c.3317T>G (p.Phe1106Cys)
n.3135T>G
n.3343T>G
1g.197435046T>ACA344046478CRB1c.3183T>A (p.Phe1061Leu)
c.2064T>A (p.Phe688Leu)
c.1326T>A (p.Phe442Leu)
c.2847T>A (p.Phe949Leu)
c.3111T>A (p.Phe1037Leu)
c.2129-554T>A (n.2129-554T>A)
n.3184T>A
n.3392T>A
c.2601T>A (p.Phe867Leu)
c.1626T>A (p.Phe542Leu)
c.2340T>A (p.Phe780Leu)
c.3318T>A (p.Phe1106Leu)
n.3136T>A
n.3344T>A
 ClinVar
1g.197435046T>CCA422809130CRB1c.3183T>C (p.Phe1061=)
c.2064T>C (p.Phe688=)
c.1326T>C (p.Phe442=)
c.2847T>C (p.Phe949=)
c.3111T>C (p.Phe1037=)
c.2129-554T>C (n.2129-554T>C)
n.3184T>C
n.3392T>C
c.2601T>C (p.Phe867=)
c.1626T>C (p.Phe542=)
c.2340T>C (p.Phe780=)
c.3318T>C (p.Phe1106=)
n.3136T>C
n.3344T>C
1g.197435046T>GCA344046482CRB1c.3183T>G (p.Phe1061Leu)
c.2064T>G (p.Phe688Leu)
c.1326T>G (p.Phe442Leu)
c.2847T>G (p.Phe949Leu)
c.3111T>G (p.Phe1037Leu)
c.2129-554T>G (n.2129-554T>G)
n.3184T>G
n.3392T>G
c.2601T>G (p.Phe867Leu)
c.1626T>G (p.Phe542Leu)
c.2340T>G (p.Phe780Leu)
c.3318T>G (p.Phe1106Leu)
n.3136T>G
n.3344T>G
1g.197435047G>ACA344046491CRB1c.3184G>A (p.Val1062Met)
c.2065G>A (p.Val689Met)
c.1327G>A (p.Val443Met)
c.2848G>A (p.Val950Met)
c.3112G>A (p.Val1038Met)
c.2129-553G>A (n.2129-553G>A)
n.3185G>A
n.3393G>A
c.2602G>A (p.Val868Met)
c.1627G>A (p.Val543Met)
c.2341G>A (p.Val781Met)
c.3319G>A (p.Val1107Met)
n.3137G>A
n.3345G>A
1g.197435047G>CCA344046494CRB1c.3184G>C (p.Val1062Leu)
c.2065G>C (p.Val689Leu)
c.1327G>C (p.Val443Leu)
c.2848G>C (p.Val950Leu)
c.3112G>C (p.Val1038Leu)
c.2129-553G>C (n.2129-553G>C)
n.3185G>C
n.3393G>C
c.2602G>C (p.Val868Leu)
c.1627G>C (p.Val543Leu)
c.2341G>C (p.Val781Leu)
c.3319G>C (p.Val1107Leu)
n.3137G>C
n.3345G>C
1g.197435047G>TCA344046498CRB1c.3184G>T (p.Val1062Leu)
c.2065G>T (p.Val689Leu)
c.1327G>T (p.Val443Leu)
c.2848G>T (p.Val950Leu)
c.3112G>T (p.Val1038Leu)
c.2129-553G>T (n.2129-553G>T)
n.3185G>T
n.3393G>T
c.2602G>T (p.Val868Leu)
c.1627G>T (p.Val543Leu)
c.2341G>T (p.Val781Leu)
c.3319G>T (p.Val1107Leu)
n.3137G>T
n.3345G>T
1g.197435048T>ACA344046500CRB1c.3185T>A (p.Val1062Glu)
c.2066T>A (p.Val689Glu)
c.1328T>A (p.Val443Glu)
c.2849T>A (p.Val950Glu)
c.3113T>A (p.Val1038Glu)
c.2129-552T>A (n.2129-552T>A)
n.3186T>A
n.3394T>A
c.2603T>A (p.Val868Glu)
c.1628T>A (p.Val543Glu)
c.2342T>A (p.Val781Glu)
c.3320T>A (p.Val1107Glu)
n.3138T>A
n.3346T>A
1g.197435048T>CCA344046501CRB1c.3185T>C (p.Val1062Ala)
c.2066T>C (p.Val689Ala)
c.1328T>C (p.Val443Ala)
c.2849T>C (p.Val950Ala)
c.3113T>C (p.Val1038Ala)
c.2129-552T>C (n.2129-552T>C)
n.3186T>C
n.3394T>C
c.2603T>C (p.Val868Ala)
c.1628T>C (p.Val543Ala)
c.2342T>C (p.Val781Ala)
c.3320T>C (p.Val1107Ala)
n.3138T>C
n.3346T>C
1g.197435048T>GCA344046499CRB1c.3185T>G (p.Val1062Gly)
c.2066T>G (p.Val689Gly)
c.1328T>G (p.Val443Gly)
c.2849T>G (p.Val950Gly)
c.3113T>G (p.Val1038Gly)
c.2129-552T>G (n.2129-552T>G)
n.3186T>G
n.3394T>G
c.2603T>G (p.Val868Gly)
c.1628T>G (p.Val543Gly)
c.2342T>G (p.Val781Gly)
c.3320T>G (p.Val1107Gly)
n.3138T>G
n.3346T>G
1g.197435049G>ACA422809149CRB1c.3186G>A (p.Val1062=)
c.2067G>A (p.Val689=)
c.1329G>A (p.Val443=)
c.2850G>A (p.Val950=)
c.3114G>A (p.Val1038=)
c.2129-551G>A (n.2129-551G>A)
n.3187G>A
n.3395G>A
c.2604G>A (p.Val868=)
c.1629G>A (p.Val543=)
c.2343G>A (p.Val781=)
c.3321G>A (p.Val1107=)
n.3139G>A
n.3347G>A
1g.197435049G>CCA422809151CRB1c.3186G>C (p.Val1062=)
c.2067G>C (p.Val689=)
c.1329G>C (p.Val443=)
c.2850G>C (p.Val950=)
c.3114G>C (p.Val1038=)
c.2129-551G>C (n.2129-551G>C)
n.3187G>C
n.3395G>C
c.2604G>C (p.Val868=)
c.1629G>C (p.Val543=)
c.2343G>C (p.Val781=)
c.3321G>C (p.Val1107=)
n.3139G>C
n.3347G>C
1g.197435049G>TCA422809141CRB1c.3186G>T (p.Val1062=)
c.2067G>T (p.Val689=)
c.1329G>T (p.Val443=)
c.2850G>T (p.Val950=)
c.3114G>T (p.Val1038=)
c.2129-551G>T (n.2129-551G>T)
n.3187G>T
n.3395G>T
c.2604G>T (p.Val868=)
c.1629G>T (p.Val543=)
c.2343G>T (p.Val781=)
c.3321G>T (p.Val1107=)
n.3139G>T
n.3347G>T
1g.197435050A>CCA344046507CRB1c.3187A>C (p.Thr1063Pro)
c.2068A>C (p.Thr690Pro)
c.1330A>C (p.Thr444Pro)
c.2851A>C (p.Thr951Pro)
c.3115A>C (p.Thr1039Pro)
c.2129-550A>C (n.2129-550A>C)
n.3188A>C
n.3396A>C
c.2605A>C (p.Thr869Pro)
c.1630A>C (p.Thr544Pro)
c.2344A>C (p.Thr782Pro)
c.3322A>C (p.Thr1108Pro)
n.3140A>C
n.3348A>C
1g.197435050A>GCA344046503CRB1c.3187A>G (p.Thr1063Ala)
c.2068A>G (p.Thr690Ala)
c.1330A>G (p.Thr444Ala)
c.2851A>G (p.Thr951Ala)
c.3115A>G (p.Thr1039Ala)
c.2129-550A>G (n.2129-550A>G)
n.3188A>G
n.3396A>G
c.2605A>G (p.Thr869Ala)
c.1630A>G (p.Thr544Ala)
c.2344A>G (p.Thr782Ala)
c.3322A>G (p.Thr1108Ala)
n.3140A>G
n.3348A>G
1g.197435050A>TCA344046505CRB1c.3187A>T (p.Thr1063Ser)
c.2068A>T (p.Thr690Ser)
c.1330A>T (p.Thr444Ser)
c.2851A>T (p.Thr951Ser)
c.3115A>T (p.Thr1039Ser)
c.2129-550A>T (n.2129-550A>T)
n.3188A>T
n.3396A>T
c.2605A>T (p.Thr869Ser)
c.1630A>T (p.Thr544Ser)
c.2344A>T (p.Thr782Ser)
c.3322A>T (p.Thr1108Ser)
n.3140A>T
n.3348A>T
1g.197435051C>ACA344046510CRB1c.3188C>A (p.Thr1063Asn)
c.2069C>A (p.Thr690Asn)
c.1331C>A (p.Thr444Asn)
c.2852C>A (p.Thr951Asn)
c.3116C>A (p.Thr1039Asn)
c.2129-549C>A (n.2129-549C>A)
n.3189C>A
n.3397C>A
c.2606C>A (p.Thr869Asn)
c.1631C>A (p.Thr544Asn)
c.2345C>A (p.Thr782Asn)
c.3323C>A (p.Thr1108Asn)
n.3141C>A
n.3349C>A
1g.197435051C>GCA344046511CRB1c.3188C>G (p.Thr1063Ser)
c.2069C>G (p.Thr690Ser)
c.1331C>G (p.Thr444Ser)
c.2852C>G (p.Thr951Ser)
c.3116C>G (p.Thr1039Ser)
c.2129-549C>G (n.2129-549C>G)
n.3189C>G
n.3397C>G
c.2606C>G (p.Thr869Ser)
c.1631C>G (p.Thr544Ser)
c.2345C>G (p.Thr782Ser)
c.3323C>G (p.Thr1108Ser)
n.3141C>G
n.3349C>G
1g.197435051C>TCA344046517CRB1c.3188C>T (p.Thr1063Ile)
c.2069C>T (p.Thr690Ile)
c.1331C>T (p.Thr444Ile)
c.2852C>T (p.Thr951Ile)
c.3116C>T (p.Thr1039Ile)
c.2129-549C>T (n.2129-549C>T)
n.3189C>T
n.3397C>T
c.2606C>T (p.Thr869Ile)
c.1631C>T (p.Thr544Ile)
c.2345C>T (p.Thr782Ile)
c.3323C>T (p.Thr1108Ile)
n.3141C>T
n.3349C>T
1g.197435052C>ACA1312290CRB1c.3189C>A (p.Thr1063=)
c.2070C>A (p.Thr690=)
c.1332C>A (p.Thr444=)
c.2853C>A (p.Thr951=)
c.3117C>A (p.Thr1039=)
c.2129-548C>A (n.2129-548C>A)
n.3190C>A
n.3398C>A
c.2607C>A (p.Thr869=)
c.1632C>A (p.Thr544=)
c.2346C>A (p.Thr782=)
c.3324C>A (p.Thr1108=)
n.3142C>A
n.3350C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435052C=CA1143729064CRB1c.3189C= (p.Thr1063=)
c.2070C= (p.Thr690=)
c.1332C= (p.Thr444=)
c.2853C= (p.Thr951=)
c.3117C= (p.Thr1039=)
c.2129-548C= (n.2129-548C=)
n.3190C=
n.3398C=
c.2607C= (p.Thr869=)
c.1632C= (p.Thr544=)
c.2346C= (p.Thr782=)
c.3324C= (p.Thr1108=)
n.3142C=
n.3350C=
1g.197435052C>GCA422809154CRB1c.3189C>G (p.Thr1063=)
c.2070C>G (p.Thr690=)
c.1332C>G (p.Thr444=)
c.2853C>G (p.Thr951=)
c.3117C>G (p.Thr1039=)
c.2129-548C>G (n.2129-548C>G)
n.3190C>G
n.3398C>G
c.2607C>G (p.Thr869=)
c.1632C>G (p.Thr544=)
c.2346C>G (p.Thr782=)
c.3324C>G (p.Thr1108=)
n.3142C>G
n.3350C>G
1g.197435052C>TCA422809157CRB1c.3189C>T (p.Thr1063=)
c.2070C>T (p.Thr690=)
c.1332C>T (p.Thr444=)
c.2853C>T (p.Thr951=)
c.3117C>T (p.Thr1039=)
c.2129-548C>T (n.2129-548C>T)
n.3190C>T
n.3398C>T
c.2607C>T (p.Thr869=)
c.1632C>T (p.Thr544=)
c.2346C>T (p.Thr782=)
c.3324C>T (p.Thr1108=)
n.3142C>T
n.3350C>T
 ClinVar COSMIC COSMIC
1g.197435053A>CCA344046524CRB1c.3190A>C (p.Ser1064Arg)
c.2071A>C (p.Ser691Arg)
c.1333A>C (p.Ser445Arg)
c.2854A>C (p.Ser952Arg)
c.3118A>C (p.Ser1040Arg)
c.2129-547A>C (n.2129-547A>C)
n.3191A>C
n.3399A>C
c.2608A>C (p.Ser870Arg)
c.1633A>C (p.Ser545Arg)
c.2347A>C (p.Ser783Arg)
c.3325A>C (p.Ser1109Arg)
n.3143A>C
n.3351A>C
1g.197435053A>GCA344046520CRB1c.3190A>G (p.Ser1064Gly)
c.2071A>G (p.Ser691Gly)
c.1333A>G (p.Ser445Gly)
c.2854A>G (p.Ser952Gly)
c.3118A>G (p.Ser1040Gly)
c.2129-547A>G (n.2129-547A>G)
n.3191A>G
n.3399A>G
c.2608A>G (p.Ser870Gly)
c.1633A>G (p.Ser545Gly)
c.2347A>G (p.Ser783Gly)
c.3325A>G (p.Ser1109Gly)
n.3143A>G
n.3351A>G
1g.197435053A>TCA344046522CRB1c.3190A>T (p.Ser1064Cys)
c.2071A>T (p.Ser691Cys)
c.1333A>T (p.Ser445Cys)
c.2854A>T (p.Ser952Cys)
c.3118A>T (p.Ser1040Cys)
c.2129-547A>T (n.2129-547A>T)
n.3191A>T
n.3399A>T
c.2608A>T (p.Ser870Cys)
c.1633A>T (p.Ser545Cys)
c.2347A>T (p.Ser783Cys)
c.3325A>T (p.Ser1109Cys)
n.3143A>T
n.3351A>T
1g.197435054G>ACA344046526CRB1c.3191G>A (p.Ser1064Asn)
c.2072G>A (p.Ser691Asn)
c.1334G>A (p.Ser445Asn)
c.2855G>A (p.Ser952Asn)
c.3119G>A (p.Ser1040Asn)
c.2129-546G>A (n.2129-546G>A)
n.3192G>A
n.3400G>A
c.2609G>A (p.Ser870Asn)
c.1634G>A (p.Ser545Asn)
c.2348G>A (p.Ser783Asn)
c.3326G>A (p.Ser1109Asn)
n.3144G>A
n.3352G>A
1g.197435054G>CCA344046527CRB1c.3191G>C (p.Ser1064Thr)
c.2072G>C (p.Ser691Thr)
c.1334G>C (p.Ser445Thr)
c.2855G>C (p.Ser952Thr)
c.3119G>C (p.Ser1040Thr)
c.2129-546G>C (n.2129-546G>C)
n.3192G>C
n.3400G>C
c.2609G>C (p.Ser870Thr)
c.1634G>C (p.Ser545Thr)
c.2348G>C (p.Ser783Thr)
c.3326G>C (p.Ser1109Thr)
n.3144G>C
n.3352G>C
1g.197435054G>TCA344046528CRB1c.3191G>T (p.Ser1064Ile)
c.2072G>T (p.Ser691Ile)
c.1334G>T (p.Ser445Ile)
c.2855G>T (p.Ser952Ile)
c.3119G>T (p.Ser1040Ile)
c.2129-546G>T (n.2129-546G>T)
n.3192G>T
n.3400G>T
c.2609G>T (p.Ser870Ile)
c.1634G>T (p.Ser545Ile)
c.2348G>T (p.Ser783Ile)
c.3326G>T (p.Ser1109Ile)
n.3144G>T
n.3352G>T
1g.197435055C>ACA344046529CRB1c.3192C>A (p.Ser1064Arg)
c.2073C>A (p.Ser691Arg)
c.1335C>A (p.Ser445Arg)
c.2856C>A (p.Ser952Arg)
c.3120C>A (p.Ser1040Arg)
c.2129-545C>A (n.2129-545C>A)
n.3193C>A
n.3401C>A
c.2610C>A (p.Ser870Arg)
c.1635C>A (p.Ser545Arg)
c.2349C>A (p.Ser783Arg)
c.3327C>A (p.Ser1109Arg)
n.3145C>A
n.3353C>A
1g.197435055C=CA1218068771CRB1c.3192C= (p.Ser1064=)
c.2073C= (p.Ser691=)
c.1335C= (p.Ser445=)
c.2856C= (p.Ser952=)
c.3120C= (p.Ser1040=)
c.2129-545C= (n.2129-545C=)
n.3193C=
n.3401C=
c.2610C= (p.Ser870=)
c.1635C= (p.Ser545=)
c.2349C= (p.Ser783=)
c.3327C= (p.Ser1109=)
n.3145C=
n.3353C=
1g.197435055C>GCA344046530CRB1c.3192C>G (p.Ser1064Arg)
c.2073C>G (p.Ser691Arg)
c.1335C>G (p.Ser445Arg)
c.2856C>G (p.Ser952Arg)
c.3120C>G (p.Ser1040Arg)
c.2129-545C>G (n.2129-545C>G)
n.3193C>G
n.3401C>G
c.2610C>G (p.Ser870Arg)
c.1635C>G (p.Ser545Arg)
c.2349C>G (p.Ser783Arg)
c.3327C>G (p.Ser1109Arg)
n.3145C>G
n.3353C>G
1g.197435055C>TCA422809166CRB1c.3192C>T (p.Ser1064=)
c.2073C>T (p.Ser691=)
c.1335C>T (p.Ser445=)
c.2856C>T (p.Ser952=)
c.3120C>T (p.Ser1040=)
c.2129-545C>T (n.2129-545C>T)
n.3193C>T
n.3401C>T
c.2610C>T (p.Ser870=)
c.1635C>T (p.Ser545=)
c.2349C>T (p.Ser783=)
c.3327C>T (p.Ser1109=)
n.3145C>T
n.3353C>T
 dbSNP COSMIC
1g.197435056A=CA1218068773CRB1c.3193A= (p.Thr1065=)
c.2074A= (p.Thr692=)
c.1336A= (p.Thr446=)
c.2857A= (p.Thr953=)
c.3121A= (p.Thr1041=)
c.2129-544A= (n.2129-544A=)
n.3194A=
n.3402A=
c.2611A= (p.Thr871=)
c.1636A= (p.Thr546=)
c.2350A= (p.Thr784=)
c.3328A= (p.Thr1110=)
n.3146A=
n.3354A=
1g.197435056A>CCA344046534CRB1c.3193A>C (p.Thr1065Pro)
c.2074A>C (p.Thr692Pro)
c.1336A>C (p.Thr446Pro)
c.2857A>C (p.Thr953Pro)
c.3121A>C (p.Thr1041Pro)
c.2129-544A>C (n.2129-544A>C)
n.3194A>C
n.3402A>C
c.2611A>C (p.Thr871Pro)
c.1636A>C (p.Thr546Pro)
c.2350A>C (p.Thr784Pro)
c.3328A>C (p.Thr1110Pro)
n.3146A>C
n.3354A>C
1g.197435056A>GCA1312291CRB1c.3193A>G (p.Thr1065Ala)
c.2074A>G (p.Thr692Ala)
c.1336A>G (p.Thr446Ala)
c.2857A>G (p.Thr953Ala)
c.3121A>G (p.Thr1041Ala)
c.2129-544A>G (n.2129-544A>G)
n.3194A>G
n.3402A>G
c.2611A>G (p.Thr871Ala)
c.1636A>G (p.Thr546Ala)
c.2350A>G (p.Thr784Ala)
c.3328A>G (p.Thr1110Ala)
n.3146A>G
n.3354A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435056A>TCA344046535CRB1c.3193A>T (p.Thr1065Ser)
c.2074A>T (p.Thr692Ser)
c.1336A>T (p.Thr446Ser)
c.2857A>T (p.Thr953Ser)
c.3121A>T (p.Thr1041Ser)
c.2129-544A>T (n.2129-544A>T)
n.3194A>T
n.3402A>T
c.2611A>T (p.Thr871Ser)
c.1636A>T (p.Thr546Ser)
c.2350A>T (p.Thr784Ser)
c.3328A>T (p.Thr1110Ser)
n.3146A>T
n.3354A>T
1g.197435056_197435057delinsACCA1218068772CRB1c.3193_3194delinsAC (p.Thr1065=)
c.2074_2075delinsAC (p.Thr692=)
c.1336_1337delinsAC (p.Thr446=)
c.2857_2858delinsAC (p.Thr953=)
c.3121_3122delinsAC (p.Thr1041=)
c.2129-544_2129-543delinsAC (n.2129-544_2129-543delinsAC)
n.3194_3195delinsAC
n.3402_3403delinsAC
c.2611_2612delinsAC (p.Thr871=)
c.1636_1637delinsAC (p.Thr546=)
c.2350_2351delinsAC (p.Thr784=)
c.3328_3329delinsAC (p.Thr1110=)
n.3146_3147delinsAC
n.3354_3355delinsAC
1g.197435057delCA1312292CRB1c.3194del (p.Thr1065LysfsTer10)
c.2075del (p.Thr692LysfsTer10)
c.1337del (p.Thr446LysfsTer10)
c.2858del (p.Thr953LysfsTer10)
c.3122del (p.Thr1041LysfsTer10)
c.2129-543del (n.2129-543del)
n.3195del
n.3403del
c.2612del (p.Thr871LysfsTer10)
c.1637del (p.Thr546LysfsTer10)
c.2351del (p.Thr784LysfsTer10)
c.3329del (p.Thr1110LysfsTer10)
n.3147del
n.3355del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435057C>ACA344046538CRB1c.3194C>A (p.Thr1065Lys)
c.2075C>A (p.Thr692Lys)
c.1337C>A (p.Thr446Lys)
c.2858C>A (p.Thr953Lys)
c.3122C>A (p.Thr1041Lys)
c.2129-543C>A (n.2129-543C>A)
n.3195C>A
n.3403C>A
c.2612C>A (p.Thr871Lys)
c.1637C>A (p.Thr546Lys)
c.2351C>A (p.Thr784Lys)
c.3329C>A (p.Thr1110Lys)
n.3147C>A
n.3355C>A
1g.197435057C>GCA344046540CRB1c.3194C>G (p.Thr1065Arg)
c.2075C>G (p.Thr692Arg)
c.1337C>G (p.Thr446Arg)
c.2858C>G (p.Thr953Arg)
c.3122C>G (p.Thr1041Arg)
c.2129-543C>G (n.2129-543C>G)
n.3195C>G
n.3403C>G
c.2612C>G (p.Thr871Arg)
c.1637C>G (p.Thr546Arg)
c.2351C>G (p.Thr784Arg)
c.3329C>G (p.Thr1110Arg)
n.3147C>G
n.3355C>G
1g.197435057C>TCA344046542CRB1c.3194C>T (p.Thr1065Ile)
c.2075C>T (p.Thr692Ile)
c.1337C>T (p.Thr446Ile)
c.2858C>T (p.Thr953Ile)
c.3122C>T (p.Thr1041Ile)
c.2129-543C>T (n.2129-543C>T)
n.3195C>T
n.3403C>T
c.2612C>T (p.Thr871Ile)
c.1637C>T (p.Thr546Ile)
c.2351C>T (p.Thr784Ile)
c.3329C>T (p.Thr1110Ile)
n.3147C>T
n.3355C>T
1g.197435058A=CA1218068774CRB1c.3195A= (p.Thr1065=)
c.2076A= (p.Thr692=)
c.1338A= (p.Thr446=)
c.2859A= (p.Thr953=)
c.3123A= (p.Thr1041=)
c.2129-542A= (n.2129-542A=)
n.3196A=
n.3404A=
c.2613A= (p.Thr871=)
c.1638A= (p.Thr546=)
c.2352A= (p.Thr784=)
c.3330A= (p.Thr1110=)
n.3148A=
n.3356A=
1g.197435058A>CCA422809178CRB1c.3195A>C (p.Thr1065=)
c.2076A>C (p.Thr692=)
c.1338A>C (p.Thr446=)
c.2859A>C (p.Thr953=)
c.3123A>C (p.Thr1041=)
c.2129-542A>C (n.2129-542A>C)
n.3196A>C
n.3404A>C
c.2613A>C (p.Thr871=)
c.1638A>C (p.Thr546=)
c.2352A>C (p.Thr784=)
c.3330A>C (p.Thr1110=)
n.3148A>C
n.3356A>C
1g.197435058A>GCA422809179CRB1c.3195A>G (p.Thr1065=)
c.2076A>G (p.Thr692=)
c.1338A>G (p.Thr446=)
c.2859A>G (p.Thr953=)
c.3123A>G (p.Thr1041=)
c.2129-542A>G (n.2129-542A>G)
n.3196A>G
n.3404A>G
c.2613A>G (p.Thr871=)
c.1638A>G (p.Thr546=)
c.2352A>G (p.Thr784=)
c.3330A>G (p.Thr1110=)
n.3148A>G
n.3356A>G
 ClinVar dbSNP
1g.197435058A>TCA422809180CRB1c.3195A>T (p.Thr1065=)
c.2076A>T (p.Thr692=)
c.1338A>T (p.Thr446=)
c.2859A>T (p.Thr953=)
c.3123A>T (p.Thr1041=)
c.2129-542A>T (n.2129-542A>T)
n.3196A>T
n.3404A>T
c.2613A>T (p.Thr871=)
c.1638A>T (p.Thr546=)
c.2352A>T (p.Thr784=)
c.3330A>T (p.Thr1110=)
n.3148A>T
n.3356A>T
1g.197435059A=CA1218068775CRB1c.3196A= (p.Ile1066=)
c.2077A= (p.Ile693=)
c.1339A= (p.Ile447=)
c.2860A= (p.Ile954=)
c.3124A= (p.Ile1042=)
c.2129-541A= (n.2129-541A=)
n.3197A=
n.3405A=
c.2614A= (p.Ile872=)
c.1639A= (p.Ile547=)
c.2353A= (p.Ile785=)
c.3331A= (p.Ile1111=)
n.3149A=
n.3357A=
1g.197435059A>CCA344046545CRB1c.3196A>C (p.Ile1066Leu)
c.2077A>C (p.Ile693Leu)
c.1339A>C (p.Ile447Leu)
c.2860A>C (p.Ile954Leu)
c.3124A>C (p.Ile1042Leu)
c.2129-541A>C (n.2129-541A>C)
n.3197A>C
n.3405A>C
c.2614A>C (p.Ile872Leu)
c.1639A>C (p.Ile547Leu)
c.2353A>C (p.Ile785Leu)
c.3331A>C (p.Ile1111Leu)
n.3149A>C
n.3357A>C
1g.197435059A>GCA35907122CRB1c.3196A>G (p.Ile1066Val)
c.2077A>G (p.Ile693Val)
c.1339A>G (p.Ile447Val)
c.2860A>G (p.Ile954Val)
c.3124A>G (p.Ile1042Val)
c.2129-541A>G (n.2129-541A>G)
n.3197A>G
n.3405A>G
c.2614A>G (p.Ile872Val)
c.1639A>G (p.Ile547Val)
c.2353A>G (p.Ile785Val)
c.3331A>G (p.Ile1111Val)
n.3149A>G
n.3357A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197435059A>TCA344046549CRB1c.3196A>T (p.Ile1066Phe)
c.2077A>T (p.Ile693Phe)
c.1339A>T (p.Ile447Phe)
c.2860A>T (p.Ile954Phe)
c.3124A>T (p.Ile1042Phe)
c.2129-541A>T (n.2129-541A>T)
n.3197A>T
n.3405A>T
c.2614A>T (p.Ile872Phe)
c.1639A>T (p.Ile547Phe)
c.2353A>T (p.Ile785Phe)
c.3331A>T (p.Ile1111Phe)
n.3149A>T
n.3357A>T
1g.197435060T>ACA344046552CRB1c.3197T>A (p.Ile1066Asn)
c.2078T>A (p.Ile693Asn)
c.1340T>A (p.Ile447Asn)
c.2861T>A (p.Ile954Asn)
c.3125T>A (p.Ile1042Asn)
c.2129-540T>A (n.2129-540T>A)
n.3198T>A
n.3406T>A
c.2615T>A (p.Ile872Asn)
c.1640T>A (p.Ile547Asn)
c.2354T>A (p.Ile785Asn)
c.3332T>A (p.Ile1111Asn)
n.3150T>A
n.3358T>A
1g.197435060T>CCA344046553CRB1c.3197T>C (p.Ile1066Thr)
c.2078T>C (p.Ile693Thr)
c.1340T>C (p.Ile447Thr)
c.2861T>C (p.Ile954Thr)
c.3125T>C (p.Ile1042Thr)
c.2129-540T>C (n.2129-540T>C)
n.3198T>C
n.3406T>C
c.2615T>C (p.Ile872Thr)
c.1640T>C (p.Ile547Thr)
c.2354T>C (p.Ile785Thr)
c.3332T>C (p.Ile1111Thr)
n.3150T>C
n.3358T>C
1g.197435060T>GCA344046555CRB1c.3197T>G (p.Ile1066Ser)
c.2078T>G (p.Ile693Ser)
c.1340T>G (p.Ile447Ser)
c.2861T>G (p.Ile954Ser)
c.3125T>G (p.Ile1042Ser)
c.2129-540T>G (n.2129-540T>G)
n.3198T>G
n.3406T>G
c.2615T>G (p.Ile872Ser)
c.1640T>G (p.Ile547Ser)
c.2354T>G (p.Ile785Ser)
c.3332T>G (p.Ile1111Ser)
n.3150T>G
n.3358T>G
1g.197435061T>ACA422809184CRB1c.3198T>A (p.Ile1066=)
c.2079T>A (p.Ile693=)
c.1341T>A (p.Ile447=)
c.2862T>A (p.Ile954=)
c.3126T>A (p.Ile1042=)
c.2129-539T>A (n.2129-539T>A)
n.3199T>A
n.3407T>A
c.2616T>A (p.Ile872=)
c.1641T>A (p.Ile547=)
c.2355T>A (p.Ile785=)
c.3333T>A (p.Ile1111=)
n.3151T>A
n.3359T>A
1g.197435061T>CCA422809187CRB1c.3198T>C (p.Ile1066=)
c.2079T>C (p.Ile693=)
c.1341T>C (p.Ile447=)
c.2862T>C (p.Ile954=)
c.3126T>C (p.Ile1042=)
c.2129-539T>C (n.2129-539T>C)
n.3199T>C
n.3407T>C
c.2616T>C (p.Ile872=)
c.1641T>C (p.Ile547=)
c.2355T>C (p.Ile785=)
c.3333T>C (p.Ile1111=)
n.3151T>C
n.3359T>C
1g.197435061T>GCA344046557CRB1c.3198T>G (p.Ile1066Met)
c.2079T>G (p.Ile693Met)
c.1341T>G (p.Ile447Met)
c.2862T>G (p.Ile954Met)
c.3126T>G (p.Ile1042Met)
c.2129-539T>G (n.2129-539T>G)
n.3199T>G
n.3407T>G
c.2616T>G (p.Ile872Met)
c.1641T>G (p.Ile547Met)
c.2355T>G (p.Ile785Met)
c.3333T>G (p.Ile1111Met)
n.3151T>G
n.3359T>G
1g.197435062G>ACA344046562CRB1c.3199G>A (p.Ala1067Thr)
c.2080G>A (p.Ala694Thr)
c.1342G>A (p.Ala448Thr)
c.2863G>A (p.Ala955Thr)
c.3127G>A (p.Ala1043Thr)
c.2129-538G>A (n.2129-538G>A)
n.3200G>A
n.3408G>A
c.2617G>A (p.Ala873Thr)
c.1642G>A (p.Ala548Thr)
c.2356G>A (p.Ala786Thr)
c.3334G>A (p.Ala1112Thr)
n.3152G>A
n.3360G>A
1g.197435062G>CCA344046561CRB1c.3199G>C (p.Ala1067Pro)
c.2080G>C (p.Ala694Pro)
c.1342G>C (p.Ala448Pro)
c.2863G>C (p.Ala955Pro)
c.3127G>C (p.Ala1043Pro)
c.2129-538G>C (n.2129-538G>C)
n.3200G>C
n.3408G>C
c.2617G>C (p.Ala873Pro)
c.1642G>C (p.Ala548Pro)
c.2356G>C (p.Ala786Pro)
c.3334G>C (p.Ala1112Pro)
n.3152G>C
n.3360G>C
1g.197435062G>TCA344046560CRB1c.3199G>T (p.Ala1067Ser)
c.2080G>T (p.Ala694Ser)
c.1342G>T (p.Ala448Ser)
c.2863G>T (p.Ala955Ser)
c.3127G>T (p.Ala1043Ser)
c.2129-538G>T (n.2129-538G>T)
n.3200G>T
n.3408G>T
c.2617G>T (p.Ala873Ser)
c.1642G>T (p.Ala548Ser)
c.2356G>T (p.Ala786Ser)
c.3334G>T (p.Ala1112Ser)
n.3152G>T
n.3360G>T
1g.197435063C>ACA344046564CRB1c.3200C>A (p.Ala1067Asp)
c.2081C>A (p.Ala694Asp)
c.1343C>A (p.Ala448Asp)
c.2864C>A (p.Ala955Asp)
c.3128C>A (p.Ala1043Asp)
c.2129-537C>A (n.2129-537C>A)
n.3201C>A
n.3409C>A
c.2618C>A (p.Ala873Asp)
c.1643C>A (p.Ala548Asp)
c.2357C>A (p.Ala786Asp)
c.3335C>A (p.Ala1112Asp)
n.3153C>A
n.3361C>A
1g.197435063C>GCA344046566CRB1c.3200C>G (p.Ala1067Gly)
c.2081C>G (p.Ala694Gly)
c.1343C>G (p.Ala448Gly)
c.2864C>G (p.Ala955Gly)
c.3128C>G (p.Ala1043Gly)
c.2129-537C>G (n.2129-537C>G)
n.3201C>G
n.3409C>G
c.2618C>G (p.Ala873Gly)
c.1643C>G (p.Ala548Gly)
c.2357C>G (p.Ala786Gly)
c.3335C>G (p.Ala1112Gly)
n.3153C>G
n.3361C>G
1g.197435063C>TCA344046567CRB1c.3200C>T (p.Ala1067Val)
c.2081C>T (p.Ala694Val)
c.1343C>T (p.Ala448Val)
c.2864C>T (p.Ala955Val)
c.3128C>T (p.Ala1043Val)
c.2129-537C>T (n.2129-537C>T)
n.3201C>T
n.3409C>T
c.2618C>T (p.Ala873Val)
c.1643C>T (p.Ala548Val)
c.2357C>T (p.Ala786Val)
c.3335C>T (p.Ala1112Val)
n.3153C>T
n.3361C>T
1g.197435064T>ACA422809193CRB1c.3201T>A (p.Ala1067=)
c.2082T>A (p.Ala694=)
c.1344T>A (p.Ala448=)
c.2865T>A (p.Ala955=)
c.3129T>A (p.Ala1043=)
c.2129-536T>A (n.2129-536T>A)
n.3202T>A
n.3410T>A
c.2619T>A (p.Ala873=)
c.1644T>A (p.Ala548=)
c.2358T>A (p.Ala786=)
c.3336T>A (p.Ala1112=)
n.3154T>A
n.3362T>A
1g.197435064T>CCA422809194CRB1c.3201T>C (p.Ala1067=)
c.2082T>C (p.Ala694=)
c.1344T>C (p.Ala448=)
c.2865T>C (p.Ala955=)
c.3129T>C (p.Ala1043=)
c.2129-536T>C (n.2129-536T>C)
n.3202T>C
n.3410T>C
c.2619T>C (p.Ala873=)
c.1644T>C (p.Ala548=)
c.2358T>C (p.Ala786=)
c.3336T>C (p.Ala1112=)
n.3154T>C
n.3362T>C
1g.197435064T>GCA422809196CRB1c.3201T>G (p.Ala1067=)
c.2082T>G (p.Ala694=)
c.1344T>G (p.Ala448=)
c.2865T>G (p.Ala955=)
c.3129T>G (p.Ala1043=)
c.2129-536T>G (n.2129-536T>G)
n.3202T>G
n.3410T>G
c.2619T>G (p.Ala873=)
c.1644T>G (p.Ala548=)
c.2358T>G (p.Ala786=)
c.3336T>G (p.Ala1112=)
n.3154T>G
n.3362T>G
1g.197435065A=CA1218068776CRB1c.3202A= (p.Thr1068=)
c.2083A= (p.Thr695=)
c.1345A= (p.Thr449=)
c.2866A= (p.Thr956=)
c.3130A= (p.Thr1044=)
c.2129-535A= (n.2129-535A=)
n.3203A=
n.3411A=
c.2620A= (p.Thr874=)
c.1645A= (p.Thr549=)
c.2359A= (p.Thr787=)
c.3337A= (p.Thr1113=)
n.3155A=
n.3363A=
1g.197435065A>CCA344046571CRB1c.3202A>C (p.Thr1068Pro)
c.2083A>C (p.Thr695Pro)
c.1345A>C (p.Thr449Pro)
c.2866A>C (p.Thr956Pro)
c.3130A>C (p.Thr1044Pro)
c.2129-535A>C (n.2129-535A>C)
n.3203A>C
n.3411A>C
c.2620A>C (p.Thr874Pro)
c.1645A>C (p.Thr549Pro)
c.2359A>C (p.Thr787Pro)
c.3337A>C (p.Thr1113Pro)
n.3155A>C
n.3363A>C
1g.197435065A>GCA10608727CRB1c.3202A>G (p.Thr1068Ala)
c.2083A>G (p.Thr695Ala)
c.1345A>G (p.Thr449Ala)
c.2866A>G (p.Thr956Ala)
c.3130A>G (p.Thr1044Ala)
c.2129-535A>G (n.2129-535A>G)
n.3203A>G
n.3411A>G
c.2620A>G (p.Thr874Ala)
c.1645A>G (p.Thr549Ala)
c.2359A>G (p.Thr787Ala)
c.3337A>G (p.Thr1113Ala)
n.3155A>G
n.3363A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435065A>TCA344046574CRB1c.3202A>T (p.Thr1068Ser)
c.2083A>T (p.Thr695Ser)
c.1345A>T (p.Thr449Ser)
c.2866A>T (p.Thr956Ser)
c.3130A>T (p.Thr1044Ser)
c.2129-535A>T (n.2129-535A>T)
n.3203A>T
n.3411A>T
c.2620A>T (p.Thr874Ser)
c.1645A>T (p.Thr549Ser)
c.2359A>T (p.Thr787Ser)
c.3337A>T (p.Thr1113Ser)
n.3155A>T
n.3363A>T
1g.197435066C>ACA344046577CRB1c.3203C>A (p.Thr1068Asn)
c.2084C>A (p.Thr695Asn)
c.1346C>A (p.Thr449Asn)
c.2867C>A (p.Thr956Asn)
c.3131C>A (p.Thr1044Asn)
c.2129-534C>A (n.2129-534C>A)
n.3204C>A
n.3412C>A
c.2621C>A (p.Thr874Asn)
c.1646C>A (p.Thr549Asn)
c.2360C>A (p.Thr787Asn)
c.3338C>A (p.Thr1113Asn)
n.3156C>A
n.3364C>A
 ClinVar dbSNP
1g.197435066C=CA1218068777CRB1c.3203C= (p.Thr1068=)
c.2084C= (p.Thr695=)
c.1346C= (p.Thr449=)
c.2867C= (p.Thr956=)
c.3131C= (p.Thr1044=)
c.2129-534C= (n.2129-534C=)
n.3204C=
n.3412C=
c.2621C= (p.Thr874=)
c.1646C= (p.Thr549=)
c.2360C= (p.Thr787=)
c.3338C= (p.Thr1113=)
n.3156C=
n.3364C=
1g.197435066C>GCA344046579CRB1c.3203C>G (p.Thr1068Ser)
c.2084C>G (p.Thr695Ser)
c.1346C>G (p.Thr449Ser)
c.2867C>G (p.Thr956Ser)
c.3131C>G (p.Thr1044Ser)
c.2129-534C>G (n.2129-534C>G)
n.3204C>G
n.3412C>G
c.2621C>G (p.Thr874Ser)
c.1646C>G (p.Thr549Ser)
c.2360C>G (p.Thr787Ser)
c.3338C>G (p.Thr1113Ser)
n.3156C>G
n.3364C>G
1g.197435066C>TCA344046581CRB1c.3203C>T (p.Thr1068Ile)
c.2084C>T (p.Thr695Ile)
c.1346C>T (p.Thr449Ile)
c.2867C>T (p.Thr956Ile)
c.3131C>T (p.Thr1044Ile)
c.2129-534C>T (n.2129-534C>T)
n.3204C>T
n.3412C>T
c.2621C>T (p.Thr874Ile)
c.1646C>T (p.Thr549Ile)
c.2360C>T (p.Thr787Ile)
c.3338C>T (p.Thr1113Ile)
n.3156C>T
n.3364C>T
1g.197435067T>ACA422809202CRB1c.3204T>A (p.Thr1068=)
c.2085T>A (p.Thr695=)
c.1347T>A (p.Thr449=)
c.2868T>A (p.Thr956=)
c.3132T>A (p.Thr1044=)
c.2129-533T>A (n.2129-533T>A)
n.3205T>A
n.3413T>A
c.2622T>A (p.Thr874=)
c.1647T>A (p.Thr549=)
c.2361T>A (p.Thr787=)
c.3339T>A (p.Thr1113=)
n.3157T>A
n.3365T>A
1g.197435067T>CCA422809205CRB1c.3204T>C (p.Thr1068=)
c.2085T>C (p.Thr695=)
c.1347T>C (p.Thr449=)
c.2868T>C (p.Thr956=)
c.3132T>C (p.Thr1044=)
c.2129-533T>C (n.2129-533T>C)
n.3205T>C
n.3413T>C
c.2622T>C (p.Thr874=)
c.1647T>C (p.Thr549=)
c.2361T>C (p.Thr787=)
c.3339T>C (p.Thr1113=)
n.3157T>C
n.3365T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435067T>GCA422809208CRB1c.3204T>G (p.Thr1068=)
c.2085T>G (p.Thr695=)
c.1347T>G (p.Thr449=)
c.2868T>G (p.Thr956=)
c.3132T>G (p.Thr1044=)
c.2129-533T>G (n.2129-533T>G)
n.3205T>G
n.3413T>G
c.2622T>G (p.Thr874=)
c.1647T>G (p.Thr549=)
c.2361T>G (p.Thr787=)
c.3339T>G (p.Thr1113=)
n.3157T>G
n.3365T>G
1g.197435067T=CA1218068778CRB1c.3204T= (p.Thr1068=)
c.2085T= (p.Thr695=)
c.1347T= (p.Thr449=)
c.2868T= (p.Thr956=)
c.3132T= (p.Thr1044=)
c.2129-533T= (n.2129-533T=)
n.3205T=
n.3413T=
c.2622T= (p.Thr874=)
c.1647T= (p.Thr549=)
c.2361T= (p.Thr787=)
c.3339T= (p.Thr1113=)
n.3157T=
n.3365T=
1g.197435068G>ACA344046584CRB1c.3205G>A (p.Gly1069Arg)
c.2086G>A (p.Gly696Arg)
c.1348G>A (p.Gly450Arg)
c.2869G>A (p.Gly957Arg)
c.3133G>A (p.Gly1045Arg)
c.2129-532G>A (n.2129-532G>A)
n.3206G>A
n.3414G>A
c.2623G>A (p.Gly875Arg)
c.1648G>A (p.Gly550Arg)
c.2362G>A (p.Gly788Arg)
c.3340G>A (p.Gly1114Arg)
n.3158G>A
n.3366G>A
1g.197435068G>CCA344046586CRB1c.3205G>C (p.Gly1069Arg)
c.2086G>C (p.Gly696Arg)
c.1348G>C (p.Gly450Arg)
c.2869G>C (p.Gly957Arg)
c.3133G>C (p.Gly1045Arg)
c.2129-532G>C (n.2129-532G>C)
n.3206G>C
n.3414G>C
c.2623G>C (p.Gly875Arg)
c.1648G>C (p.Gly550Arg)
c.2362G>C (p.Gly788Arg)
c.3340G>C (p.Gly1114Arg)
n.3158G>C
n.3366G>C
1g.197435068G>TCA344046588CRB1c.3205G>T (p.Gly1069Ter)
c.2086G>T (p.Gly696Ter)
c.1348G>T (p.Gly450Ter)
c.2869G>T (p.Gly957Ter)
c.3133G>T (p.Gly1045Ter)
c.2129-532G>T (n.2129-532G>T)
n.3206G>T
n.3414G>T
c.2623G>T (p.Gly875Ter)
c.1648G>T (p.Gly550Ter)
c.2362G>T (p.Gly788Ter)
c.3340G>T (p.Gly1114Ter)
n.3158G>T
n.3366G>T
1g.197435069G>ACA344046593CRB1c.3206G>A (p.Gly1069Glu)
c.2087G>A (p.Gly696Glu)
c.1349G>A (p.Gly450Glu)
c.2870G>A (p.Gly957Glu)
c.3134G>A (p.Gly1045Glu)
c.2129-531G>A (n.2129-531G>A)
n.3207G>A
n.3415G>A
c.2624G>A (p.Gly875Glu)
c.1649G>A (p.Gly550Glu)
c.2363G>A (p.Gly788Glu)
c.3341G>A (p.Gly1114Glu)
n.3159G>A
n.3367G>A
 gnomAD v4
1g.197435069G>CCA344046595CRB1c.3206G>C (p.Gly1069Ala)
c.2087G>C (p.Gly696Ala)
c.1349G>C (p.Gly450Ala)
c.2870G>C (p.Gly957Ala)
c.3134G>C (p.Gly1045Ala)
c.2129-531G>C (n.2129-531G>C)
n.3207G>C
n.3415G>C
c.2624G>C (p.Gly875Ala)
c.1649G>C (p.Gly550Ala)
c.2363G>C (p.Gly788Ala)
c.3341G>C (p.Gly1114Ala)
n.3159G>C
n.3367G>C
1g.197435069G>TCA344046591CRB1c.3206G>T (p.Gly1069Val)
c.2087G>T (p.Gly696Val)
c.1349G>T (p.Gly450Val)
c.2870G>T (p.Gly957Val)
c.3134G>T (p.Gly1045Val)
c.2129-531G>T (n.2129-531G>T)
n.3207G>T
n.3415G>T
c.2624G>T (p.Gly875Val)
c.1649G>T (p.Gly550Val)
c.2363G>T (p.Gly788Val)
c.3341G>T (p.Gly1114Val)
n.3159G>T
n.3367G>T
1g.197435070A>CCA422809215CRB1c.3207A>C (p.Gly1069=)
c.2088A>C (p.Gly696=)
c.1350A>C (p.Gly450=)
c.2871A>C (p.Gly957=)
c.3135A>C (p.Gly1045=)
c.2129-530A>C (n.2129-530A>C)
n.3208A>C
n.3416A>C
c.2625A>C (p.Gly875=)
c.1650A>C (p.Gly550=)
c.2364A>C (p.Gly788=)
c.3342A>C (p.Gly1114=)
n.3160A>C
n.3368A>C
1g.197435070A>GCA422809214CRB1c.3207A>G (p.Gly1069=)
c.2088A>G (p.Gly696=)
c.1350A>G (p.Gly450=)
c.2871A>G (p.Gly957=)
c.3135A>G (p.Gly1045=)
c.2129-530A>G (n.2129-530A>G)
n.3208A>G
n.3416A>G
c.2625A>G (p.Gly875=)
c.1650A>G (p.Gly550=)
c.2364A>G (p.Gly788=)
c.3342A>G (p.Gly1114=)
n.3160A>G
n.3368A>G
1g.197435070A>TCA422809213CRB1c.3207A>T (p.Gly1069=)
c.2088A>T (p.Gly696=)
c.1350A>T (p.Gly450=)
c.2871A>T (p.Gly957=)
c.3135A>T (p.Gly1045=)
c.2129-530A>T (n.2129-530A>T)
n.3208A>T
n.3416A>T
c.2625A>T (p.Gly875=)
c.1650A>T (p.Gly550=)
c.2364A>T (p.Gly788=)
c.3342A>T (p.Gly1114=)
n.3160A>T
n.3368A>T
1g.197435071A>CCA344046598CRB1c.3208A>C (p.Ser1070Arg)
c.2089A>C (p.Ser697Arg)
c.1351A>C (p.Ser451Arg)
c.2872A>C (p.Ser958Arg)
c.3136A>C (p.Ser1046Arg)
c.2129-529A>C (n.2129-529A>C)
n.3209A>C
n.3417A>C
c.2626A>C (p.Ser876Arg)
c.1651A>C (p.Ser551Arg)
c.2365A>C (p.Ser789Arg)
c.3343A>C (p.Ser1115Arg)
n.3161A>C
n.3369A>C
1g.197435071A>GCA344046600CRB1c.3208A>G (p.Ser1070Gly)
c.2089A>G (p.Ser697Gly)
c.1351A>G (p.Ser451Gly)
c.2872A>G (p.Ser958Gly)
c.3136A>G (p.Ser1046Gly)
c.2129-529A>G (n.2129-529A>G)
n.3209A>G
n.3417A>G
c.2626A>G (p.Ser876Gly)
c.1651A>G (p.Ser551Gly)
c.2365A>G (p.Ser789Gly)
c.3343A>G (p.Ser1115Gly)
n.3161A>G
n.3369A>G
1g.197435071A>TCA344046602CRB1c.3208A>T (p.Ser1070Cys)
c.2089A>T (p.Ser697Cys)
c.1351A>T (p.Ser451Cys)
c.2872A>T (p.Ser958Cys)
c.3136A>T (p.Ser1046Cys)
c.2129-529A>T (n.2129-529A>T)
n.3209A>T
n.3417A>T
c.2626A>T (p.Ser876Cys)
c.1651A>T (p.Ser551Cys)
c.2365A>T (p.Ser789Cys)
c.3343A>T (p.Ser1115Cys)
n.3161A>T
n.3369A>T
1g.197435072G>ACA344046605CRB1c.3209G>A (p.Ser1070Asn)
c.2090G>A (p.Ser697Asn)
c.1352G>A (p.Ser451Asn)
c.2873G>A (p.Ser958Asn)
c.3137G>A (p.Ser1046Asn)
c.2129-528G>A (n.2129-528G>A)
n.3210G>A
n.3418G>A
c.2627G>A (p.Ser876Asn)
c.1652G>A (p.Ser551Asn)
c.2366G>A (p.Ser789Asn)
c.3344G>A (p.Ser1115Asn)
n.3162G>A
n.3370G>A
1g.197435072G>CCA344046607CRB1c.3209G>C (p.Ser1070Thr)
c.2090G>C (p.Ser697Thr)
c.1352G>C (p.Ser451Thr)
c.2873G>C (p.Ser958Thr)
c.3137G>C (p.Ser1046Thr)
c.2129-528G>C (n.2129-528G>C)
n.3210G>C
n.3418G>C
c.2627G>C (p.Ser876Thr)
c.1652G>C (p.Ser551Thr)
c.2366G>C (p.Ser789Thr)
c.3344G>C (p.Ser1115Thr)
n.3162G>C
n.3370G>C
 gnomAD v4
1g.197435072G=CA1218068779CRB1c.3209G= (p.Ser1070=)
c.2090G= (p.Ser697=)
c.1352G= (p.Ser451=)
c.2873G= (p.Ser958=)
c.3137G= (p.Ser1046=)
c.2129-528G= (n.2129-528G=)
n.3210G=
n.3418G=
c.2627G= (p.Ser876=)
c.1652G= (p.Ser551=)
c.2366G= (p.Ser789=)
c.3344G= (p.Ser1115=)
n.3162G=
n.3370G=
1g.197435072G>TCA344046609CRB1c.3209G>T (p.Ser1070Ile)
c.2090G>T (p.Ser697Ile)
c.1352G>T (p.Ser451Ile)
c.2873G>T (p.Ser958Ile)
c.3137G>T (p.Ser1046Ile)
c.2129-528G>T (n.2129-528G>T)
n.3210G>T
n.3418G>T
c.2627G>T (p.Ser876Ile)
c.1652G>T (p.Ser551Ile)
c.2366G>T (p.Ser789Ile)
c.3344G>T (p.Ser1115Ile)
n.3162G>T
n.3370G>T
 ClinVar dbSNP
1g.197435073C>ACA344046611CRB1c.3210C>A (p.Ser1070Arg)
c.2091C>A (p.Ser697Arg)
c.1353C>A (p.Ser451Arg)
c.2874C>A (p.Ser958Arg)
c.3138C>A (p.Ser1046Arg)
c.2129-527C>A (n.2129-527C>A)
n.3211C>A
n.3419C>A
c.2628C>A (p.Ser876Arg)
c.1653C>A (p.Ser551Arg)
c.2367C>A (p.Ser789Arg)
c.3345C>A (p.Ser1115Arg)
n.3163C>A
n.3371C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197435073C=CA1218068780CRB1c.3210C= (p.Ser1070=)
c.2091C= (p.Ser697=)
c.1353C= (p.Ser451=)
c.2874C= (p.Ser958=)
c.3138C= (p.Ser1046=)
c.2129-527C= (n.2129-527C=)
n.3211C=
n.3419C=
c.2628C= (p.Ser876=)
c.1653C= (p.Ser551=)
c.2367C= (p.Ser789=)
c.3345C= (p.Ser1115=)
n.3163C=
n.3371C=
1g.197435073C>GCA344046612CRB1c.3210C>G (p.Ser1070Arg)
c.2091C>G (p.Ser697Arg)
c.1353C>G (p.Ser451Arg)
c.2874C>G (p.Ser958Arg)
c.3138C>G (p.Ser1046Arg)
c.2129-527C>G (n.2129-527C>G)
n.3211C>G
n.3419C>G
c.2628C>G (p.Ser876Arg)
c.1653C>G (p.Ser551Arg)
c.2367C>G (p.Ser789Arg)
c.3345C>G (p.Ser1115Arg)
n.3163C>G
n.3371C>G
1g.197435073C>TCA422809221CRB1c.3210C>T (p.Ser1070=)
c.2091C>T (p.Ser697=)
c.1353C>T (p.Ser451=)
c.2874C>T (p.Ser958=)
c.3138C>T (p.Ser1046=)
c.2129-527C>T (n.2129-527C>T)
n.3211C>T
n.3419C>T
c.2628C>T (p.Ser876=)
c.1653C>T (p.Ser551=)
c.2367C>T (p.Ser789=)
c.3345C>T (p.Ser1115=)
n.3163C>T
n.3371C>T
 COSMIC COSMIC
1g.197435074C>ACA344046615CRB1c.3211C>A (p.Leu1071Ile)
c.2092C>A (p.Leu698Ile)
c.1354C>A (p.Leu452Ile)
c.2875C>A (p.Leu959Ile)
c.3139C>A (p.Leu1047Ile)
c.2129-526C>A (n.2129-526C>A)
n.3212C>A
n.3420C>A
c.2629C>A (p.Leu877Ile)
c.1654C>A (p.Leu552Ile)
c.2368C>A (p.Leu790Ile)
c.3346C>A (p.Leu1116Ile)
n.3164C>A
n.3372C>A
 gnomAD v4
1g.197435074C=CA1144233385CRB1c.3211C= (p.Leu1071=)
c.2092C= (p.Leu698=)
c.1354C= (p.Leu452=)
c.2875C= (p.Leu959=)
c.3139C= (p.Leu1047=)
c.2129-526C= (n.2129-526C=)
n.3212C=
n.3420C=
c.2629C= (p.Leu877=)
c.1654C= (p.Leu552=)
c.2368C= (p.Leu790=)
c.3346C= (p.Leu1116=)
n.3164C=
n.3372C=
1g.197435074C>GCA344046617CRB1c.3211C>G (p.Leu1071Val)
c.2092C>G (p.Leu698Val)
c.1354C>G (p.Leu452Val)
c.2875C>G (p.Leu959Val)
c.3139C>G (p.Leu1047Val)
c.2129-526C>G (n.2129-526C>G)
n.3212C>G
n.3420C>G
c.2629C>G (p.Leu877Val)
c.1654C>G (p.Leu552Val)
c.2368C>G (p.Leu790Val)
c.3346C>G (p.Leu1116Val)
n.3164C>G
n.3372C>G
1g.197435074C>TCA224389CRB1c.3211C>T (p.Leu1071Phe)
c.2092C>T (p.Leu698Phe)
c.1354C>T (p.Leu452Phe)
c.2875C>T (p.Leu959Phe)
c.3139C>T (p.Leu1047Phe)
c.2129-526C>T (n.2129-526C>T)
n.3212C>T
n.3420C>T
c.2629C>T (p.Leu877Phe)
c.1654C>T (p.Leu552Phe)
c.2368C>T (p.Leu790Phe)
c.3346C>T (p.Leu1116Phe)
n.3164C>T
n.3372C>T
 ClinVar dbSNP
1g.197435075T>ACA344046621CRB1c.3212T>A (p.Leu1071His)
c.2093T>A (p.Leu698His)
c.1355T>A (p.Leu452His)
c.2876T>A (p.Leu959His)
c.3140T>A (p.Leu1047His)
c.2129-525T>A (n.2129-525T>A)
n.3213T>A
n.3421T>A
c.2630T>A (p.Leu877His)
c.1655T>A (p.Leu552His)
c.2369T>A (p.Leu790His)
c.3347T>A (p.Leu1116His)
n.3165T>A
n.3373T>A
1g.197435075T>CCA228034CRB1c.3212T>C (p.Leu1071Pro)
c.2093T>C (p.Leu698Pro)
c.1355T>C (p.Leu452Pro)
c.2876T>C (p.Leu959Pro)
c.3140T>C (p.Leu1047Pro)
c.2129-525T>C (n.2129-525T>C)
n.3213T>C
n.3421T>C
c.2630T>C (p.Leu877Pro)
c.1655T>C (p.Leu552Pro)
c.2369T>C (p.Leu790Pro)
c.3347T>C (p.Leu1116Pro)
n.3165T>C
n.3373T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435075T>GCA344046625CRB1c.3212T>G (p.Leu1071Arg)
c.2093T>G (p.Leu698Arg)
c.1355T>G (p.Leu452Arg)
c.2876T>G (p.Leu959Arg)
c.3140T>G (p.Leu1047Arg)
c.2129-525T>G (n.2129-525T>G)
n.3213T>G
n.3421T>G
c.2630T>G (p.Leu877Arg)
c.1655T>G (p.Leu552Arg)
c.2369T>G (p.Leu790Arg)
c.3347T>G (p.Leu1116Arg)
n.3165T>G
n.3373T>G
1g.197435075T=CA1140762962CRB1c.3212T= (p.Leu1071=)
c.2093T= (p.Leu698=)
c.1355T= (p.Leu452=)
c.2876T= (p.Leu959=)
c.3140T= (p.Leu1047=)
c.2129-525T= (n.2129-525T=)
n.3213T=
n.3421T=
c.2630T= (p.Leu877=)
c.1655T= (p.Leu552=)
c.2369T= (p.Leu790=)
c.3347T= (p.Leu1116=)
n.3165T=
n.3373T=
1g.197435076C>ACA422809229CRB1c.3213C>A (p.Leu1071=)
c.2094C>A (p.Leu698=)
c.1356C>A (p.Leu452=)
c.2877C>A (p.Leu959=)
c.3141C>A (p.Leu1047=)
c.2129-524C>A (n.2129-524C>A)
n.3214C>A
n.3422C>A
c.2631C>A (p.Leu877=)
c.1656C>A (p.Leu552=)
c.2370C>A (p.Leu790=)
c.3348C>A (p.Leu1116=)
n.3166C>A
n.3374C>A
1g.197435076C>GCA422809230CRB1c.3213C>G (p.Leu1071=)
c.2094C>G (p.Leu698=)
c.1356C>G (p.Leu452=)
c.2877C>G (p.Leu959=)
c.3141C>G (p.Leu1047=)
c.2129-524C>G (n.2129-524C>G)
n.3214C>G
n.3422C>G
c.2631C>G (p.Leu877=)
c.1656C>G (p.Leu552=)
c.2370C>G (p.Leu790=)
c.3348C>G (p.Leu1116=)
n.3166C>G
n.3374C>G
1g.197435076C>TCA422809231CRB1c.3213C>T (p.Leu1071=)
c.2094C>T (p.Leu698=)
c.1356C>T (p.Leu452=)
c.2877C>T (p.Leu959=)
c.3141C>T (p.Leu1047=)
c.2129-524C>T (n.2129-524C>T)
n.3214C>T
n.3422C>T
c.2631C>T (p.Leu877=)
c.1656C>T (p.Leu552=)
c.2370C>T (p.Leu790=)
c.3348C>T (p.Leu1116=)
n.3166C>T
n.3374C>T
 ClinVar dbSNP gnomAD v4
1g.197435077A>CCA344046629CRB1c.3214A>C (p.Asn1072His)
c.2095A>C (p.Asn699His)
c.1357A>C (p.Asn453His)
c.2878A>C (p.Asn960His)
c.3142A>C (p.Asn1048His)
c.2129-523A>C (n.2129-523A>C)
n.3215A>C
n.3423A>C
c.2632A>C (p.Asn878His)
c.1657A>C (p.Asn553His)
c.2371A>C (p.Asn791His)
c.3349A>C (p.Asn1117His)
n.3167A>C
n.3375A>C
1g.197435077A>GCA344046632CRB1c.3214A>G (p.Asn1072Asp)
c.2095A>G (p.Asn699Asp)
c.1357A>G (p.Asn453Asp)
c.2878A>G (p.Asn960Asp)
c.3142A>G (p.Asn1048Asp)
c.2129-523A>G (n.2129-523A>G)
n.3215A>G
n.3423A>G
c.2632A>G (p.Asn878Asp)
c.1657A>G (p.Asn553Asp)
c.2371A>G (p.Asn791Asp)
c.3349A>G (p.Asn1117Asp)
n.3167A>G
n.3375A>G
 COSMIC
1g.197435077A>TCA344046628CRB1c.3214A>T (p.Asn1072Tyr)
c.2095A>T (p.Asn699Tyr)
c.1357A>T (p.Asn453Tyr)
c.2878A>T (p.Asn960Tyr)
c.3142A>T (p.Asn1048Tyr)
c.2129-523A>T (n.2129-523A>T)
n.3215A>T
n.3423A>T
c.2632A>T (p.Asn878Tyr)
c.1657A>T (p.Asn553Tyr)
c.2371A>T (p.Asn791Tyr)
c.3349A>T (p.Asn1117Tyr)
n.3167A>T
n.3375A>T
1g.197435078A=CA1218068781CRB1c.3215A= (p.Asn1072=)
c.2096A= (p.Asn699=)
c.1358A= (p.Asn453=)
c.2879A= (p.Asn960=)
c.3143A= (p.Asn1048=)
c.2129-522A= (n.2129-522A=)
n.3216A=
n.3424A=
c.2633A= (p.Asn878=)
c.1658A= (p.Asn553=)
c.2372A= (p.Asn791=)
c.3350A= (p.Asn1117=)
n.3168A=
n.3376A=
1g.197435078A>CCA344046639CRB1c.3215A>C (p.Asn1072Thr)
c.2096A>C (p.Asn699Thr)
c.1358A>C (p.Asn453Thr)
c.2879A>C (p.Asn960Thr)
c.3143A>C (p.Asn1048Thr)
c.2129-522A>C (n.2129-522A>C)
n.3216A>C
n.3424A>C
c.2633A>C (p.Asn878Thr)
c.1658A>C (p.Asn553Thr)
c.2372A>C (p.Asn791Thr)
c.3350A>C (p.Asn1117Thr)
n.3168A>C
n.3376A>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435078A>GCA1312293CRB1c.3215A>G (p.Asn1072Ser)
c.2096A>G (p.Asn699Ser)
c.1358A>G (p.Asn453Ser)
c.2879A>G (p.Asn960Ser)
c.3143A>G (p.Asn1048Ser)
c.2129-522A>G (n.2129-522A>G)
n.3216A>G
n.3424A>G
c.2633A>G (p.Asn878Ser)
c.1658A>G (p.Asn553Ser)
c.2372A>G (p.Asn791Ser)
c.3350A>G (p.Asn1117Ser)
n.3168A>G
n.3376A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435078A>TCA344046637CRB1c.3215A>T (p.Asn1072Ile)
c.2096A>T (p.Asn699Ile)
c.1358A>T (p.Asn453Ile)
c.2879A>T (p.Asn960Ile)
c.3143A>T (p.Asn1048Ile)
c.2129-522A>T (n.2129-522A>T)
n.3216A>T
n.3424A>T
c.2633A>T (p.Asn878Ile)
c.1658A>T (p.Asn553Ile)
c.2372A>T (p.Asn791Ile)
c.3350A>T (p.Asn1117Ile)
n.3168A>T
n.3376A>T
1g.197435078_197435079delinsACCA1218068782CRB1c.3215_3216delinsAC (p.Asn1072=)
c.2096_2097delinsAC (p.Asn699=)
c.1358_1359delinsAC (p.Asn453=)
c.2879_2880delinsAC (p.Asn960=)
c.3143_3144delinsAC (p.Asn1048=)
c.2129-522_2129-521delinsAC (n.2129-522_2129-521delinsAC)
n.3216_3217delinsAC
n.3424_3425delinsAC
c.2633_2634delinsAC (p.Asn878=)
c.1658_1659delinsAC (p.Asn553=)
c.2372_2373delinsAC (p.Asn791=)
c.3350_3351delinsAC (p.Asn1117=)
n.3168_3169delinsAC
n.3376_3377delinsAC
1g.197435079delCA1218068784CRB1c.3216del (p.Leu1074Ter)
c.2097del (p.Leu701Ter)
c.1359del (p.Leu455Ter)
c.2880del (p.Leu962Ter)
c.3144del (p.Leu1050Ter)
c.2129-521del (n.2129-521del)
n.3217del
n.3425del
c.2634del (p.Leu880Ter)
c.1659del (p.Leu555Ter)
c.2373del (p.Leu793Ter)
c.3351del (p.Leu1119Ter)
n.3169del
n.3377del
 dbSNP gnomAD v4
1g.197435079C>ACA344046640CRB1c.3216C>A (p.Asn1072Lys)
c.2097C>A (p.Asn699Lys)
c.1359C>A (p.Asn453Lys)
c.2880C>A (p.Asn960Lys)
c.3144C>A (p.Asn1048Lys)
c.2129-521C>A (n.2129-521C>A)
n.3217C>A
n.3425C>A
c.2634C>A (p.Asn878Lys)
c.1659C>A (p.Asn553Lys)
c.2373C>A (p.Asn791Lys)
c.3351C>A (p.Asn1117Lys)
n.3169C>A
n.3377C>A
1g.197435079C=CA1218068783CRB1c.3216C= (p.Asn1072=)
c.2097C= (p.Asn699=)
c.1359C= (p.Asn453=)
c.2880C= (p.Asn960=)
c.3144C= (p.Asn1048=)
c.2129-521C= (n.2129-521C=)
n.3217C=
n.3425C=
c.2634C= (p.Asn878=)
c.1659C= (p.Asn553=)
c.2373C= (p.Asn791=)
c.3351C= (p.Asn1117=)
n.3169C=
n.3377C=
1g.197435079C>GCA344046642CRB1c.3216C>G (p.Asn1072Lys)
c.2097C>G (p.Asn699Lys)
c.1359C>G (p.Asn453Lys)
c.2880C>G (p.Asn960Lys)
c.3144C>G (p.Asn1048Lys)
c.2129-521C>G (n.2129-521C>G)
n.3217C>G
n.3425C>G
c.2634C>G (p.Asn878Lys)
c.1659C>G (p.Asn553Lys)
c.2373C>G (p.Asn791Lys)
c.3351C>G (p.Asn1117Lys)
n.3169C>G
n.3377C>G
 dbSNP gnomAD v4
1g.197435079C>TCA422809237CRB1c.3216C>T (p.Asn1072=)
c.2097C>T (p.Asn699=)
c.1359C>T (p.Asn453=)
c.2880C>T (p.Asn960=)
c.3144C>T (p.Asn1048=)
c.2129-521C>T (n.2129-521C>T)
n.3217C>T
n.3425C>T
c.2634C>T (p.Asn878=)
c.1659C>T (p.Asn553=)
c.2373C>T (p.Asn791=)
c.3351C>T (p.Asn1117=)
n.3169C>T
n.3377C>T
 gnomAD v4
1g.197435080T>ACA344046648CRB1c.3217T>A (p.Phe1073Ile)
c.2098T>A (p.Phe700Ile)
c.1360T>A (p.Phe454Ile)
c.2881T>A (p.Phe961Ile)
c.3145T>A (p.Phe1049Ile)
c.2129-520T>A (n.2129-520T>A)
n.3218T>A
n.3426T>A
c.2635T>A (p.Phe879Ile)
c.1660T>A (p.Phe554Ile)
c.2374T>A (p.Phe792Ile)
c.3352T>A (p.Phe1118Ile)
n.3170T>A
n.3378T>A
 dbSNP gnomAD v4
1g.197435080T>CCA344046650CRB1c.3217T>C (p.Phe1073Leu)
c.2098T>C (p.Phe700Leu)
c.1360T>C (p.Phe454Leu)
c.2881T>C (p.Phe961Leu)
c.3145T>C (p.Phe1049Leu)
c.2129-520T>C (n.2129-520T>C)
n.3218T>C
n.3426T>C
c.2635T>C (p.Phe879Leu)
c.1660T>C (p.Phe554Leu)
c.2374T>C (p.Phe792Leu)
c.3352T>C (p.Phe1118Leu)
n.3170T>C
n.3378T>C
1g.197435080T>GCA344046652CRB1c.3217T>G (p.Phe1073Val)
c.2098T>G (p.Phe700Val)
c.1360T>G (p.Phe454Val)
c.2881T>G (p.Phe961Val)
c.3145T>G (p.Phe1049Val)
c.2129-520T>G (n.2129-520T>G)
n.3218T>G
n.3426T>G
c.2635T>G (p.Phe879Val)
c.1660T>G (p.Phe554Val)
c.2374T>G (p.Phe792Val)
c.3352T>G (p.Phe1118Val)
n.3170T>G
n.3378T>G
 COSMIC COSMIC
1g.197435080T=CA1218068785CRB1c.3217T= (p.Phe1073=)
c.2098T= (p.Phe700=)
c.1360T= (p.Phe454=)
c.2881T= (p.Phe961=)
c.3145T= (p.Phe1049=)
c.2129-520T= (n.2129-520T=)
n.3218T=
n.3426T=
c.2635T= (p.Phe879=)
c.1660T= (p.Phe554=)
c.2374T= (p.Phe792=)
c.3352T= (p.Phe1118=)
n.3170T=
n.3378T=
1g.197435081T>ACA344046659CRB1c.3218T>A (p.Phe1073Tyr)
c.2099T>A (p.Phe700Tyr)
c.1361T>A (p.Phe454Tyr)
c.2882T>A (p.Phe961Tyr)
c.3146T>A (p.Phe1049Tyr)
c.2129-519T>A (n.2129-519T>A)
n.3219T>A
n.3427T>A
c.2636T>A (p.Phe879Tyr)
c.1661T>A (p.Phe554Tyr)
c.2375T>A (p.Phe792Tyr)
c.3353T>A (p.Phe1118Tyr)
n.3171T>A
n.3379T>A
1g.197435081T>CCA344046655CRB1c.3218T>C (p.Phe1073Ser)
c.2099T>C (p.Phe700Ser)
c.1361T>C (p.Phe454Ser)
c.2882T>C (p.Phe961Ser)
c.3146T>C (p.Phe1049Ser)
c.2129-519T>C (n.2129-519T>C)
n.3219T>C
n.3427T>C
c.2636T>C (p.Phe879Ser)
c.1661T>C (p.Phe554Ser)
c.2375T>C (p.Phe792Ser)
c.3353T>C (p.Phe1118Ser)
n.3171T>C
n.3379T>C
1g.197435081T>GCA344046657CRB1c.3218T>G (p.Phe1073Cys)
c.2099T>G (p.Phe700Cys)
c.1361T>G (p.Phe454Cys)
c.2882T>G (p.Phe961Cys)
c.3146T>G (p.Phe1049Cys)
c.2129-519T>G (n.2129-519T>G)
n.3219T>G
n.3427T>G
c.2636T>G (p.Phe879Cys)
c.1661T>G (p.Phe554Cys)
c.2375T>G (p.Phe792Cys)
c.3353T>G (p.Phe1118Cys)
n.3171T>G
n.3379T>G
1g.197435082T>ACA344046662CRB1c.3219T>A (p.Phe1073Leu)
c.2100T>A (p.Phe700Leu)
c.1362T>A (p.Phe454Leu)
c.2883T>A (p.Phe961Leu)
c.3147T>A (p.Phe1049Leu)
c.2129-518T>A (n.2129-518T>A)
n.3220T>A
n.3428T>A
c.2637T>A (p.Phe879Leu)
c.1662T>A (p.Phe554Leu)
c.2376T>A (p.Phe792Leu)
c.3354T>A (p.Phe1118Leu)
n.3172T>A
n.3380T>A
1g.197435082T>CCA422809243CRB1c.3219T>C (p.Phe1073=)
c.2100T>C (p.Phe700=)
c.1362T>C (p.Phe454=)
c.2883T>C (p.Phe961=)
c.3147T>C (p.Phe1049=)
c.2129-518T>C (n.2129-518T>C)
n.3220T>C
n.3428T>C
c.2637T>C (p.Phe879=)
c.1662T>C (p.Phe554=)
c.2376T>C (p.Phe792=)
c.3354T>C (p.Phe1118=)
n.3172T>C
n.3380T>C
1g.197435082T>GCA344046664CRB1c.3219T>G (p.Phe1073Leu)
c.2100T>G (p.Phe700Leu)
c.1362T>G (p.Phe454Leu)
c.2883T>G (p.Phe961Leu)
c.3147T>G (p.Phe1049Leu)
c.2129-518T>G (n.2129-518T>G)
n.3220T>G
n.3428T>G
c.2637T>G (p.Phe879Leu)
c.1662T>G (p.Phe554Leu)
c.2376T>G (p.Phe792Leu)
c.3354T>G (p.Phe1118Leu)
n.3172T>G
n.3380T>G
1g.197435083T>ACA344046667CRB1c.3220T>A (p.Leu1074Met)
c.2101T>A (p.Leu701Met)
c.1363T>A (p.Leu455Met)
c.2884T>A (p.Leu962Met)
c.3148T>A (p.Leu1050Met)
c.2129-517T>A (n.2129-517T>A)
n.3221T>A
n.3429T>A
c.2638T>A (p.Leu880Met)
c.1663T>A (p.Leu555Met)
c.2377T>A (p.Leu793Met)
c.3355T>A (p.Leu1119Met)
n.3173T>A
n.3381T>A
1g.197435083T>CCA1312294CRB1c.3220T>C (p.Leu1074=)
c.2101T>C (p.Leu701=)
c.1363T>C (p.Leu455=)
c.2884T>C (p.Leu962=)
c.3148T>C (p.Leu1050=)
c.2129-517T>C (n.2129-517T>C)
n.3221T>C
n.3429T>C
c.2638T>C (p.Leu880=)
c.1663T>C (p.Leu555=)
c.2377T>C (p.Leu793=)
c.3355T>C (p.Leu1119=)
n.3173T>C
n.3381T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435083T>GCA344046670CRB1c.3220T>G (p.Leu1074Val)
c.2101T>G (p.Leu701Val)
c.1363T>G (p.Leu455Val)
c.2884T>G (p.Leu962Val)
c.3148T>G (p.Leu1050Val)
c.2129-517T>G (n.2129-517T>G)
n.3221T>G
n.3429T>G
c.2638T>G (p.Leu880Val)
c.1663T>G (p.Leu555Val)
c.2377T>G (p.Leu793Val)
c.3355T>G (p.Leu1119Val)
n.3173T>G
n.3381T>G
 gnomAD v4
1g.197435083T=CA1218068786CRB1c.3220T= (p.Leu1074=)
c.2101T= (p.Leu701=)
c.1363T= (p.Leu455=)
c.2884T= (p.Leu962=)
c.3148T= (p.Leu1050=)
c.2129-517T= (n.2129-517T=)
n.3221T=
n.3429T=
c.2638T= (p.Leu880=)
c.1663T= (p.Leu555=)
c.2377T= (p.Leu793=)
c.3355T= (p.Leu1119=)
n.3173T=
n.3381T=
1g.197435084T>ACA344046675CRB1c.3221T>A (p.Leu1074Ter)
c.2102T>A (p.Leu701Ter)
c.1364T>A (p.Leu455Ter)
c.2885T>A (p.Leu962Ter)
c.3149T>A (p.Leu1050Ter)
c.2129-516T>A (n.2129-516T>A)
n.3222T>A
n.3430T>A
c.2639T>A (p.Leu880Ter)
c.1664T>A (p.Leu555Ter)
c.2378T>A (p.Leu793Ter)
c.3356T>A (p.Leu1119Ter)
n.3174T>A
n.3382T>A
1g.197435084T>CCA1312295CRB1c.3221T>C (p.Leu1074Ser)
c.2102T>C (p.Leu701Ser)
c.1364T>C (p.Leu455Ser)
c.2885T>C (p.Leu962Ser)
c.3149T>C (p.Leu1050Ser)
c.2129-516T>C (n.2129-516T>C)
n.3222T>C
n.3430T>C
c.2639T>C (p.Leu880Ser)
c.1664T>C (p.Leu555Ser)
c.2378T>C (p.Leu793Ser)
c.3356T>C (p.Leu1119Ser)
n.3174T>C
n.3382T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435084T>GCA344046674CRB1c.3221T>G (p.Leu1074Trp)
c.2102T>G (p.Leu701Trp)
c.1364T>G (p.Leu455Trp)
c.2885T>G (p.Leu962Trp)
c.3149T>G (p.Leu1050Trp)
c.2129-516T>G (n.2129-516T>G)
n.3222T>G
n.3430T>G
c.2639T>G (p.Leu880Trp)
c.1664T>G (p.Leu555Trp)
c.2378T>G (p.Leu793Trp)
c.3356T>G (p.Leu1119Trp)
n.3174T>G
n.3382T>G
1g.197435084T=CA1218068787CRB1c.3221T= (p.Leu1074=)
c.2102T= (p.Leu701=)
c.1364T= (p.Leu455=)
c.2885T= (p.Leu962=)
c.3149T= (p.Leu1050=)
c.2129-516T= (n.2129-516T=)
n.3222T=
n.3430T=
c.2639T= (p.Leu880=)
c.1664T= (p.Leu555=)
c.2378T= (p.Leu793=)
c.3356T= (p.Leu1119=)
n.3174T=
n.3382T=
1g.197435085G>ACA422809249CRB1c.3222G>A (p.Leu1074=)
c.2103G>A (p.Leu701=)
c.1365G>A (p.Leu455=)
c.2886G>A (p.Leu962=)
c.3150G>A (p.Leu1050=)
c.2129-515G>A (n.2129-515G>A)
n.3223G>A
n.3431G>A
c.2640G>A (p.Leu880=)
c.1665G>A (p.Leu555=)
c.2379G>A (p.Leu793=)
c.3357G>A (p.Leu1119=)
n.3175G>A
n.3383G>A
 gnomAD v4
1g.197435085G>CCA344046678CRB1c.3222G>C (p.Leu1074Phe)
c.2103G>C (p.Leu701Phe)
c.1365G>C (p.Leu455Phe)
c.2886G>C (p.Leu962Phe)
c.3150G>C (p.Leu1050Phe)
c.2129-515G>C (n.2129-515G>C)
n.3223G>C
n.3431G>C
c.2640G>C (p.Leu880Phe)
c.1665G>C (p.Leu555Phe)
c.2379G>C (p.Leu793Phe)
c.3357G>C (p.Leu1119Phe)
n.3175G>C
n.3383G>C
1g.197435085G>TCA344046680CRB1c.3222G>T (p.Leu1074Phe)
c.2103G>T (p.Leu701Phe)
c.1365G>T (p.Leu455Phe)
c.2886G>T (p.Leu962Phe)
c.3150G>T (p.Leu1050Phe)
c.2129-515G>T (n.2129-515G>T)
n.3223G>T
n.3431G>T
c.2640G>T (p.Leu880Phe)
c.1665G>T (p.Leu555Phe)
c.2379G>T (p.Leu793Phe)
c.3357G>T (p.Leu1119Phe)
n.3175G>T
n.3383G>T
1g.197435086A>CCA344046682CRB1c.3223A>C (p.Lys1075Gln)
c.2104A>C (p.Lys702Gln)
c.1366A>C (p.Lys456Gln)
c.2887A>C (p.Lys963Gln)
c.3151A>C (p.Lys1051Gln)
c.2129-514A>C (n.2129-514A>C)
n.3224A>C
n.3432A>C
c.2641A>C (p.Lys881Gln)
c.1666A>C (p.Lys556Gln)
c.2380A>C (p.Lys794Gln)
c.3358A>C (p.Lys1120Gln)
n.3176A>C
n.3384A>C
1g.197435086A>GCA344046684CRB1c.3223A>G (p.Lys1075Glu)
c.2104A>G (p.Lys702Glu)
c.1366A>G (p.Lys456Glu)
c.2887A>G (p.Lys963Glu)
c.3151A>G (p.Lys1051Glu)
c.2129-514A>G (n.2129-514A>G)
n.3224A>G
n.3432A>G
c.2641A>G (p.Lys881Glu)
c.1666A>G (p.Lys556Glu)
c.2380A>G (p.Lys794Glu)
c.3358A>G (p.Lys1120Glu)
n.3176A>G
n.3384A>G
1g.197435086A>TCA344046690CRB1c.3223A>T (p.Lys1075Ter)
c.2104A>T (p.Lys702Ter)
c.1366A>T (p.Lys456Ter)
c.2887A>T (p.Lys963Ter)
c.3151A>T (p.Lys1051Ter)
c.2129-514A>T (n.2129-514A>T)
n.3224A>T
n.3432A>T
c.2641A>T (p.Lys881Ter)
c.1666A>T (p.Lys556Ter)
c.2380A>T (p.Lys794Ter)
c.3358A>T (p.Lys1120Ter)
n.3176A>T
n.3384A>T
1g.197435087A>CCA344046699CRB1c.3224A>C (p.Lys1075Thr)
c.2105A>C (p.Lys702Thr)
c.1367A>C (p.Lys456Thr)
c.2888A>C (p.Lys963Thr)
c.3152A>C (p.Lys1051Thr)
c.2129-513A>C (n.2129-513A>C)
n.3225A>C
n.3433A>C
c.2642A>C (p.Lys881Thr)
c.1667A>C (p.Lys556Thr)
c.2381A>C (p.Lys794Thr)
c.3359A>C (p.Lys1120Thr)
n.3177A>C
n.3385A>C
 ClinVar dbSNP
1g.197435087A>GCA344046697CRB1c.3224A>G (p.Lys1075Arg)
c.2105A>G (p.Lys702Arg)
c.1367A>G (p.Lys456Arg)
c.2888A>G (p.Lys963Arg)
c.3152A>G (p.Lys1051Arg)
c.2129-513A>G (n.2129-513A>G)
n.3225A>G
n.3433A>G
c.2642A>G (p.Lys881Arg)
c.1667A>G (p.Lys556Arg)
c.2381A>G (p.Lys794Arg)
c.3359A>G (p.Lys1120Arg)
n.3177A>G
n.3385A>G
 gnomAD v4
1g.197435087A>TCA344046694CRB1c.3224A>T (p.Lys1075Met)
c.2105A>T (p.Lys702Met)
c.1367A>T (p.Lys456Met)
c.2888A>T (p.Lys963Met)
c.3152A>T (p.Lys1051Met)
c.2129-513A>T (n.2129-513A>T)
n.3225A>T
n.3433A>T
c.2642A>T (p.Lys881Met)
c.1667A>T (p.Lys556Met)
c.2381A>T (p.Lys794Met)
c.3359A>T (p.Lys1120Met)
n.3177A>T
n.3385A>T
1g.197435088G>ACA35907171CRB1c.3225G>A (p.Lys1075=)
c.2106G>A (p.Lys702=)
c.1368G>A (p.Lys456=)
c.2889G>A (p.Lys963=)
c.3153G>A (p.Lys1051=)
c.2129-512G>A (n.2129-512G>A)
n.3226G>A
n.3434G>A
c.2643G>A (p.Lys881=)
c.1668G>A (p.Lys556=)
c.2382G>A (p.Lys794=)
c.3360G>A (p.Lys1120=)
n.3178G>A
n.3386G>A
 ClinVar dbSNP
1g.197435088G>CCA344046704CRB1c.3225G>C (p.Lys1075Asn)
c.2106G>C (p.Lys702Asn)
c.1368G>C (p.Lys456Asn)
c.2889G>C (p.Lys963Asn)
c.3153G>C (p.Lys1051Asn)
c.2129-512G>C (n.2129-512G>C)
n.3226G>C
n.3434G>C
c.2643G>C (p.Lys881Asn)
c.1668G>C (p.Lys556Asn)
c.2382G>C (p.Lys794Asn)
c.3360G>C (p.Lys1120Asn)
n.3178G>C
n.3386G>C
1g.197435088G=CA1218068788CRB1c.3225G= (p.Lys1075=)
c.2106G= (p.Lys702=)
c.1368G= (p.Lys456=)
c.2889G= (p.Lys963=)
c.3153G= (p.Lys1051=)
c.2129-512G= (n.2129-512G=)
n.3226G=
n.3434G=
c.2643G= (p.Lys881=)
c.1668G= (p.Lys556=)
c.2382G= (p.Lys794=)
c.3360G= (p.Lys1120=)
n.3178G=
n.3386G=
1g.197435088G>TCA344046706CRB1c.3225G>T (p.Lys1075Asn)
c.2106G>T (p.Lys702Asn)
c.1368G>T (p.Lys456Asn)
c.2889G>T (p.Lys963Asn)
c.3153G>T (p.Lys1051Asn)
c.2129-512G>T (n.2129-512G>T)
n.3226G>T
n.3434G>T
c.2643G>T (p.Lys881Asn)
c.1668G>T (p.Lys556Asn)
c.2382G>T (p.Lys794Asn)
c.3360G>T (p.Lys1120Asn)
n.3178G>T
n.3386G>T
1g.197435089G>ACA1312296CRB1c.3226G>A (p.Asp1076Asn)
c.2107G>A (p.Asp703Asn)
c.1369G>A (p.Asp457Asn)
c.2890G>A (p.Asp964Asn)
c.3154G>A (p.Asp1052Asn)
c.2129-511G>A (n.2129-511G>A)
n.3227G>A
n.3435G>A
c.2644G>A (p.Asp882Asn)
c.1669G>A (p.Asp557Asn)
c.2383G>A (p.Asp795Asn)
c.3361G>A (p.Asp1121Asn)
n.3179G>A
n.3387G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197435089G>CCA344046710CRB1c.3226G>C (p.Asp1076His)
c.2107G>C (p.Asp703His)
c.1369G>C (p.Asp457His)
c.2890G>C (p.Asp964His)
c.3154G>C (p.Asp1052His)
c.2129-511G>C (n.2129-511G>C)
n.3227G>C
n.3435G>C
c.2644G>C (p.Asp882His)
c.1669G>C (p.Asp557His)
c.2383G>C (p.Asp795His)
c.3361G>C (p.Asp1121His)
n.3179G>C
n.3387G>C
1g.197435089G=CA1218068789CRB1c.3226G= (p.Asp1076=)
c.2107G= (p.Asp703=)
c.1369G= (p.Asp457=)
c.2890G= (p.Asp964=)
c.3154G= (p.Asp1052=)
c.2129-511G= (n.2129-511G=)
n.3227G=
n.3435G=
c.2644G= (p.Asp882=)
c.1669G= (p.Asp557=)
c.2383G= (p.Asp795=)
c.3361G= (p.Asp1121=)
n.3179G=
n.3387G=
1g.197435089G>TCA344046712CRB1c.3226G>T (p.Asp1076Tyr)
c.2107G>T (p.Asp703Tyr)
c.1369G>T (p.Asp457Tyr)
c.2890G>T (p.Asp964Tyr)
c.3154G>T (p.Asp1052Tyr)
c.2129-511G>T (n.2129-511G>T)
n.3227G>T
n.3435G>T
c.2644G>T (p.Asp882Tyr)
c.1669G>T (p.Asp557Tyr)
c.2383G>T (p.Asp795Tyr)
c.3361G>T (p.Asp1121Tyr)
n.3179G>T
n.3387G>T
1g.197435090A>CCA344046715CRB1c.3227A>C (p.Asp1076Ala)
c.2108A>C (p.Asp703Ala)
c.1370A>C (p.Asp457Ala)
c.2891A>C (p.Asp964Ala)
c.3155A>C (p.Asp1052Ala)
c.2129-510A>C (n.2129-510A>C)
n.3228A>C
n.3436A>C
c.2645A>C (p.Asp882Ala)
c.1670A>C (p.Asp557Ala)
c.2384A>C (p.Asp795Ala)
c.3362A>C (p.Asp1121Ala)
n.3180A>C
n.3388A>C
1g.197435090A>GCA344046719CRB1c.3227A>G (p.Asp1076Gly)
c.2108A>G (p.Asp703Gly)
c.1370A>G (p.Asp457Gly)
c.2891A>G (p.Asp964Gly)
c.3155A>G (p.Asp1052Gly)
c.2129-510A>G (n.2129-510A>G)
n.3228A>G
n.3436A>G
c.2645A>G (p.Asp882Gly)
c.1670A>G (p.Asp557Gly)
c.2384A>G (p.Asp795Gly)
c.3362A>G (p.Asp1121Gly)
n.3180A>G
n.3388A>G
1g.197435090A>TCA344046717CRB1c.3227A>T (p.Asp1076Val)
c.2108A>T (p.Asp703Val)
c.1370A>T (p.Asp457Val)
c.2891A>T (p.Asp964Val)
c.3155A>T (p.Asp1052Val)
c.2129-510A>T (n.2129-510A>T)
n.3228A>T
n.3436A>T
c.2645A>T (p.Asp882Val)
c.1670A>T (p.Asp557Val)
c.2384A>T (p.Asp795Val)
c.3362A>T (p.Asp1121Val)
n.3180A>T
n.3388A>T
1g.197435091T>ACA344046722CRB1c.3228T>A (p.Asp1076Glu)
c.2109T>A (p.Asp703Glu)
c.1371T>A (p.Asp457Glu)
c.2892T>A (p.Asp964Glu)
c.3156T>A (p.Asp1052Glu)
c.2129-509T>A (n.2129-509T>A)
n.3229T>A
n.3437T>A
c.2646T>A (p.Asp882Glu)
c.1671T>A (p.Asp557Glu)
c.2385T>A (p.Asp795Glu)
c.3363T>A (p.Asp1121Glu)
n.3181T>A
n.3389T>A
1g.197435091T>CCA1312297CRB1c.3228T>C (p.Asp1076=)
c.2109T>C (p.Asp703=)
c.1371T>C (p.Asp457=)
c.2892T>C (p.Asp964=)
c.3156T>C (p.Asp1052=)
c.2129-509T>C (n.2129-509T>C)
n.3229T>C
n.3437T>C
c.2646T>C (p.Asp882=)
c.1671T>C (p.Asp557=)
c.2385T>C (p.Asp795=)
c.3363T>C (p.Asp1121=)
n.3181T>C
n.3389T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435091T>GCA344046725CRB1c.3228T>G (p.Asp1076Glu)
c.2109T>G (p.Asp703Glu)
c.1371T>G (p.Asp457Glu)
c.2892T>G (p.Asp964Glu)
c.3156T>G (p.Asp1052Glu)
c.2129-509T>G (n.2129-509T>G)
n.3229T>G
n.3437T>G
c.2646T>G (p.Asp882Glu)
c.1671T>G (p.Asp557Glu)
c.2385T>G (p.Asp795Glu)
c.3363T>G (p.Asp1121Glu)
n.3181T>G
n.3389T>G
1g.197435091T=CA1218068790CRB1c.3228T= (p.Asp1076=)
c.2109T= (p.Asp703=)
c.1371T= (p.Asp457=)
c.2892T= (p.Asp964=)
c.3156T= (p.Asp1052=)
c.2129-509T= (n.2129-509T=)
n.3229T=
n.3437T=
c.2646T= (p.Asp882=)
c.1671T= (p.Asp557=)
c.2385T= (p.Asp795=)
c.3363T= (p.Asp1121=)
n.3181T=
n.3389T=
1g.197435092A=CA1218068791CRB1c.3229A= (p.Asn1077=)
c.2110A= (p.Asn704=)
c.1372A= (p.Asn458=)
c.2893A= (p.Asn965=)
c.3157A= (p.Asn1053=)
c.2129-508A= (n.2129-508A=)
n.3230A=
n.3438A=
c.2647A= (p.Asn883=)
c.1672A= (p.Asn558=)
c.2386A= (p.Asn796=)
c.3364A= (p.Asn1122=)
n.3182A=
n.3390A=
1g.197435092A>CCA344046728CRB1c.3229A>C (p.Asn1077His)
c.2110A>C (p.Asn704His)
c.1372A>C (p.Asn458His)
c.2893A>C (p.Asn965His)
c.3157A>C (p.Asn1053His)
c.2129-508A>C (n.2129-508A>C)
n.3230A>C
n.3438A>C
c.2647A>C (p.Asn883His)
c.1672A>C (p.Asn558His)
c.2386A>C (p.Asn796His)
c.3364A>C (p.Asn1122His)
n.3182A>C
n.3390A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435092A>GCA344046729CRB1c.3229A>G (p.Asn1077Asp)
c.2110A>G (p.Asn704Asp)
c.1372A>G (p.Asn458Asp)
c.2893A>G (p.Asn965Asp)
c.3157A>G (p.Asn1053Asp)
c.2129-508A>G (n.2129-508A>G)
n.3230A>G
n.3438A>G
c.2647A>G (p.Asn883Asp)
c.1672A>G (p.Asn558Asp)
c.2386A>G (p.Asn796Asp)
c.3364A>G (p.Asn1122Asp)
n.3182A>G
n.3390A>G
 gnomAD v4
1g.197435092A>TCA344046731CRB1c.3229A>T (p.Asn1077Tyr)
c.2110A>T (p.Asn704Tyr)
c.1372A>T (p.Asn458Tyr)
c.2893A>T (p.Asn965Tyr)
c.3157A>T (p.Asn1053Tyr)
c.2129-508A>T (n.2129-508A>T)
n.3230A>T
n.3438A>T
c.2647A>T (p.Asn883Tyr)
c.1672A>T (p.Asn558Tyr)
c.2386A>T (p.Asn796Tyr)
c.3364A>T (p.Asn1122Tyr)
n.3182A>T
n.3390A>T
1g.197435093A=CA1218068792CRB1c.3230A= (p.Asn1077=)
c.2111A= (p.Asn704=)
c.1373A= (p.Asn458=)
c.2894A= (p.Asn965=)
c.3158A= (p.Asn1053=)
c.2129-507A= (n.2129-507A=)
n.3231A=
n.3439A=
c.2648A= (p.Asn883=)
c.1673A= (p.Asn558=)
c.2387A= (p.Asn796=)
c.3365A= (p.Asn1122=)
n.3183A=
n.3391A=
1g.197435093A>CCA344046738CRB1c.3230A>C (p.Asn1077Thr)
c.2111A>C (p.Asn704Thr)
c.1373A>C (p.Asn458Thr)
c.2894A>C (p.Asn965Thr)
c.3158A>C (p.Asn1053Thr)
c.2129-507A>C (n.2129-507A>C)
n.3231A>C
n.3439A>C
c.2648A>C (p.Asn883Thr)
c.1673A>C (p.Asn558Thr)
c.2387A>C (p.Asn796Thr)
c.3365A>C (p.Asn1122Thr)
n.3183A>C
n.3391A>C
 dbSNP
1g.197435093A>GCA344046734CRB1c.3230A>G (p.Asn1077Ser)
c.2111A>G (p.Asn704Ser)
c.1373A>G (p.Asn458Ser)
c.2894A>G (p.Asn965Ser)
c.3158A>G (p.Asn1053Ser)
c.2129-507A>G (n.2129-507A>G)
n.3231A>G
n.3439A>G
c.2648A>G (p.Asn883Ser)
c.1673A>G (p.Asn558Ser)
c.2387A>G (p.Asn796Ser)
c.3365A>G (p.Asn1122Ser)
n.3183A>G
n.3391A>G
1g.197435093A>TCA344046736CRB1c.3230A>T (p.Asn1077Ile)
c.2111A>T (p.Asn704Ile)
c.1373A>T (p.Asn458Ile)
c.2894A>T (p.Asn965Ile)
c.3158A>T (p.Asn1053Ile)
c.2129-507A>T (n.2129-507A>T)
n.3231A>T
n.3439A>T
c.2648A>T (p.Asn883Ile)
c.1673A>T (p.Asn558Ile)
c.2387A>T (p.Asn796Ile)
c.3365A>T (p.Asn1122Ile)
n.3183A>T
n.3391A>T
1g.197435094T>ACA344046740CRB1c.3231T>A (p.Asn1077Lys)
c.2112T>A (p.Asn704Lys)
c.1374T>A (p.Asn458Lys)
c.2895T>A (p.Asn965Lys)
c.3159T>A (p.Asn1053Lys)
c.2129-506T>A (n.2129-506T>A)
n.3232T>A
n.3440T>A
c.2649T>A (p.Asn883Lys)
c.1674T>A (p.Asn558Lys)
c.2388T>A (p.Asn796Lys)
c.3366T>A (p.Asn1122Lys)
n.3184T>A
n.3392T>A
1g.197435094T>CCA422809268CRB1c.3231T>C (p.Asn1077=)
c.2112T>C (p.Asn704=)
c.1374T>C (p.Asn458=)
c.2895T>C (p.Asn965=)
c.3159T>C (p.Asn1053=)
c.2129-506T>C (n.2129-506T>C)
n.3232T>C
n.3440T>C
c.2649T>C (p.Asn883=)
c.1674T>C (p.Asn558=)
c.2388T>C (p.Asn796=)
c.3366T>C (p.Asn1122=)
n.3184T>C
n.3392T>C
 ClinVar dbSNP COSMIC
1g.197435094T>GCA344046742CRB1c.3231T>G (p.Asn1077Lys)
c.2112T>G (p.Asn704Lys)
c.1374T>G (p.Asn458Lys)
c.2895T>G (p.Asn965Lys)
c.3159T>G (p.Asn1053Lys)
c.2129-506T>G (n.2129-506T>G)
n.3232T>G
n.3440T>G
c.2649T>G (p.Asn883Lys)
c.1674T>G (p.Asn558Lys)
c.2388T>G (p.Asn796Lys)
c.3366T>G (p.Asn1122Lys)
n.3184T>G
n.3392T>G
1g.197435095A=CA1144853253CRB1c.3232A= (p.Thr1078=)
c.2113A= (p.Thr705=)
c.1375A= (p.Thr459=)
c.2896A= (p.Thr966=)
c.3160A= (p.Thr1054=)
c.2129-505A= (n.2129-505A=)
n.3233A=
n.3441A=
c.2650A= (p.Thr884=)
c.1675A= (p.Thr559=)
c.2389A= (p.Thr797=)
c.3367A= (p.Thr1123=)
n.3185A=
n.3393A=
1g.197435095A>CCA35907196CRB1c.3232A>C (p.Thr1078Pro)
c.2113A>C (p.Thr705Pro)
c.1375A>C (p.Thr459Pro)
c.2896A>C (p.Thr966Pro)
c.3160A>C (p.Thr1054Pro)
c.2129-505A>C (n.2129-505A>C)
n.3233A>C
n.3441A>C
c.2650A>C (p.Thr884Pro)
c.1675A>C (p.Thr559Pro)
c.2389A>C (p.Thr797Pro)
c.3367A>C (p.Thr1123Pro)
n.3185A>C
n.3393A>C
 dbSNP
1g.197435095A>GCA1312298CRB1c.3232A>G (p.Thr1078Ala)
c.2113A>G (p.Thr705Ala)
c.1375A>G (p.Thr459Ala)
c.2896A>G (p.Thr966Ala)
c.3160A>G (p.Thr1054Ala)
c.2129-505A>G (n.2129-505A>G)
n.3233A>G
n.3441A>G
c.2650A>G (p.Thr884Ala)
c.1675A>G (p.Thr559Ala)
c.2389A>G (p.Thr797Ala)
c.3367A>G (p.Thr1123Ala)
n.3185A>G
n.3393A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435095A>TCA344046748CRB1c.3232A>T (p.Thr1078Ser)
c.2113A>T (p.Thr705Ser)
c.1375A>T (p.Thr459Ser)
c.2896A>T (p.Thr966Ser)
c.3160A>T (p.Thr1054Ser)
c.2129-505A>T (n.2129-505A>T)
n.3233A>T
n.3441A>T
c.2650A>T (p.Thr884Ser)
c.1675A>T (p.Thr559Ser)
c.2389A>T (p.Thr797Ser)
c.3367A>T (p.Thr1123Ser)
n.3185A>T
n.3393A>T
1g.197435096C>ACA344046751CRB1c.3233C>A (p.Thr1078Lys)
c.2114C>A (p.Thr705Lys)
c.1376C>A (p.Thr459Lys)
c.2897C>A (p.Thr966Lys)
c.3161C>A (p.Thr1054Lys)
c.2129-504C>A (n.2129-504C>A)
n.3234C>A
n.3442C>A
c.2651C>A (p.Thr884Lys)
c.1676C>A (p.Thr559Lys)
c.2390C>A (p.Thr797Lys)
c.3368C>A (p.Thr1123Lys)
n.3186C>A
n.3394C>A
1g.197435096C=CA1218068793CRB1c.3233C= (p.Thr1078=)
c.2114C= (p.Thr705=)
c.1376C= (p.Thr459=)
c.2897C= (p.Thr966=)
c.3161C= (p.Thr1054=)
c.2129-504C= (n.2129-504C=)
n.3234C=
n.3442C=
c.2651C= (p.Thr884=)
c.1676C= (p.Thr559=)
c.2390C= (p.Thr797=)
c.3368C= (p.Thr1123=)
n.3186C=
n.3394C=
1g.197435096C>GCA344046755CRB1c.3233C>G (p.Thr1078Arg)
c.2114C>G (p.Thr705Arg)
c.1376C>G (p.Thr459Arg)
c.2897C>G (p.Thr966Arg)
c.3161C>G (p.Thr1054Arg)
c.2129-504C>G (n.2129-504C>G)
n.3234C>G
n.3442C>G
c.2651C>G (p.Thr884Arg)
c.1676C>G (p.Thr559Arg)
c.2390C>G (p.Thr797Arg)
c.3368C>G (p.Thr1123Arg)
n.3186C>G
n.3394C>G
1g.197435096C>TCA344046753CRB1c.3233C>T (p.Thr1078Ile)
c.2114C>T (p.Thr705Ile)
c.1376C>T (p.Thr459Ile)
c.2897C>T (p.Thr966Ile)
c.3161C>T (p.Thr1054Ile)
c.2129-504C>T (n.2129-504C>T)
n.3234C>T
n.3442C>T
c.2651C>T (p.Thr884Ile)
c.1676C>T (p.Thr559Ile)
c.2390C>T (p.Thr797Ile)
c.3368C>T (p.Thr1123Ile)
n.3186C>T
n.3394C>T
 dbSNP
1g.197435097A>CCA422809278CRB1c.3234A>C (p.Thr1078=)
c.2115A>C (p.Thr705=)
c.1377A>C (p.Thr459=)
c.2898A>C (p.Thr966=)
c.3162A>C (p.Thr1054=)
c.2129-503A>C (n.2129-503A>C)
n.3235A>C
n.3443A>C
c.2652A>C (p.Thr884=)
c.1677A>C (p.Thr559=)
c.2391A>C (p.Thr797=)
c.3369A>C (p.Thr1123=)
n.3187A>C
n.3395A>C
1g.197435097A>GCA422809282CRB1c.3234A>G (p.Thr1078=)
c.2115A>G (p.Thr705=)
c.1377A>G (p.Thr459=)
c.2898A>G (p.Thr966=)
c.3162A>G (p.Thr1054=)
c.2129-503A>G (n.2129-503A>G)
n.3235A>G
n.3443A>G
c.2652A>G (p.Thr884=)
c.1677A>G (p.Thr559=)
c.2391A>G (p.Thr797=)
c.3369A>G (p.Thr1123=)
n.3187A>G
n.3395A>G
1g.197435097A>TCA422809284CRB1c.3234A>T (p.Thr1078=)
c.2115A>T (p.Thr705=)
c.1377A>T (p.Thr459=)
c.2898A>T (p.Thr966=)
c.3162A>T (p.Thr1054=)
c.2129-503A>T (n.2129-503A>T)
n.3235A>T
n.3443A>T
c.2652A>T (p.Thr884=)
c.1677A>T (p.Thr559=)
c.2391A>T (p.Thr797=)
c.3369A>T (p.Thr1123=)
n.3187A>T
n.3395A>T
1g.197435098G>ACA344046758CRB1c.3235G>A (p.Asp1079Asn)
c.2116G>A (p.Asp706Asn)
c.1378G>A (p.Asp460Asn)
c.2899G>A (p.Asp967Asn)
c.3163G>A (p.Asp1055Asn)
c.2129-502G>A (n.2129-502G>A)
n.3236G>A
n.3444G>A
c.2653G>A (p.Asp885Asn)
c.1678G>A (p.Asp560Asn)
c.2392G>A (p.Asp798Asn)
c.3370G>A (p.Asp1124Asn)
n.3188G>A
n.3396G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197435098G>CCA344046760CRB1c.3235G>C (p.Asp1079His)
c.2116G>C (p.Asp706His)
c.1378G>C (p.Asp460His)
c.2899G>C (p.Asp967His)
c.3163G>C (p.Asp1055His)
c.2129-502G>C (n.2129-502G>C)
n.3236G>C
n.3444G>C
c.2653G>C (p.Asp885His)
c.1678G>C (p.Asp560His)
c.2392G>C (p.Asp798His)
c.3370G>C (p.Asp1124His)
n.3188G>C
n.3396G>C
1g.197435098G=CA1218068794CRB1c.3235G= (p.Asp1079=)
c.2116G= (p.Asp706=)
c.1378G= (p.Asp460=)
c.2899G= (p.Asp967=)
c.3163G= (p.Asp1055=)
c.2129-502G= (n.2129-502G=)
n.3236G=
n.3444G=
c.2653G= (p.Asp885=)
c.1678G= (p.Asp560=)
c.2392G= (p.Asp798=)
c.3370G= (p.Asp1124=)
n.3188G=
n.3396G=
1g.197435098G>TCA344046763CRB1c.3235G>T (p.Asp1079Tyr)
c.2116G>T (p.Asp706Tyr)
c.1378G>T (p.Asp460Tyr)
c.2899G>T (p.Asp967Tyr)
c.3163G>T (p.Asp1055Tyr)
c.2129-502G>T (n.2129-502G>T)
n.3236G>T
n.3444G>T
c.2653G>T (p.Asp885Tyr)
c.1678G>T (p.Asp560Tyr)
c.2392G>T (p.Asp798Tyr)
c.3370G>T (p.Asp1124Tyr)
n.3188G>T
n.3396G>T
 COSMIC COSMIC
1g.197435099A>CCA344046766CRB1c.3236A>C (p.Asp1079Ala)
c.2117A>C (p.Asp706Ala)
c.1379A>C (p.Asp460Ala)
c.2900A>C (p.Asp967Ala)
c.3164A>C (p.Asp1055Ala)
c.2129-501A>C (n.2129-501A>C)
n.3237A>C
n.3445A>C
c.2654A>C (p.Asp885Ala)
c.1679A>C (p.Asp560Ala)
c.2393A>C (p.Asp798Ala)
c.3371A>C (p.Asp1124Ala)
n.3189A>C
n.3397A>C
1g.197435099A>GCA344046768CRB1c.3236A>G (p.Asp1079Gly)
c.2117A>G (p.Asp706Gly)
c.1379A>G (p.Asp460Gly)
c.2900A>G (p.Asp967Gly)
c.3164A>G (p.Asp1055Gly)
c.2129-501A>G (n.2129-501A>G)
n.3237A>G
n.3445A>G
c.2654A>G (p.Asp885Gly)
c.1679A>G (p.Asp560Gly)
c.2393A>G (p.Asp798Gly)
c.3371A>G (p.Asp1124Gly)
n.3189A>G
n.3397A>G
 gnomAD v4
1g.197435099A>TCA344046770CRB1c.3236A>T (p.Asp1079Val)
c.2117A>T (p.Asp706Val)
c.1379A>T (p.Asp460Val)
c.2900A>T (p.Asp967Val)
c.3164A>T (p.Asp1055Val)
c.2129-501A>T (n.2129-501A>T)
n.3237A>T
n.3445A>T
c.2654A>T (p.Asp885Val)
c.1679A>T (p.Asp560Val)
c.2393A>T (p.Asp798Val)
c.3371A>T (p.Asp1124Val)
n.3189A>T
n.3397A>T
1g.197435100T>ACA344046773CRB1c.3237T>A (p.Asp1079Glu)
c.2118T>A (p.Asp706Glu)
c.1380T>A (p.Asp460Glu)
c.2901T>A (p.Asp967Glu)
c.3165T>A (p.Asp1055Glu)
c.2129-500T>A (n.2129-500T>A)
n.3238T>A
n.3446T>A
c.2655T>A (p.Asp885Glu)
c.1680T>A (p.Asp560Glu)
c.2394T>A (p.Asp798Glu)
c.3372T>A (p.Asp1124Glu)
n.3190T>A
n.3398T>A
1g.197435100T>CCA422809302CRB1c.3237T>C (p.Asp1079=)
c.2118T>C (p.Asp706=)
c.1380T>C (p.Asp460=)
c.2901T>C (p.Asp967=)
c.3165T>C (p.Asp1055=)
c.2129-500T>C (n.2129-500T>C)
n.3238T>C
n.3446T>C
c.2655T>C (p.Asp885=)
c.1680T>C (p.Asp560=)
c.2394T>C (p.Asp798=)
c.3372T>C (p.Asp1124=)
n.3190T>C
n.3398T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435100T>GCA344046775CRB1c.3237T>G (p.Asp1079Glu)
c.2118T>G (p.Asp706Glu)
c.1380T>G (p.Asp460Glu)
c.2901T>G (p.Asp967Glu)
c.3165T>G (p.Asp1055Glu)
c.2129-500T>G (n.2129-500T>G)
n.3238T>G
n.3446T>G
c.2655T>G (p.Asp885Glu)
c.1680T>G (p.Asp560Glu)
c.2394T>G (p.Asp798Glu)
c.3372T>G (p.Asp1124Glu)
n.3190T>G
n.3398T>G
1g.197435100T=CA1218068795CRB1c.3237T= (p.Asp1079=)
c.2118T= (p.Asp706=)
c.1380T= (p.Asp460=)
c.2901T= (p.Asp967=)
c.3165T= (p.Asp1055=)
c.2129-500T= (n.2129-500T=)
n.3238T=
n.3446T=
c.2655T= (p.Asp885=)
c.1680T= (p.Asp560=)
c.2394T= (p.Asp798=)
c.3372T= (p.Asp1124=)
n.3190T=
n.3398T=
1g.197435101A>CCA344046778CRB1c.3238A>C (p.Ile1080Leu)
c.2119A>C (p.Ile707Leu)
c.1381A>C (p.Ile461Leu)
c.2902A>C (p.Ile968Leu)
c.3166A>C (p.Ile1056Leu)
c.2129-499A>C (n.2129-499A>C)
n.3239A>C
n.3447A>C
c.2656A>C (p.Ile886Leu)
c.1681A>C (p.Ile561Leu)
c.2395A>C (p.Ile799Leu)
c.3373A>C (p.Ile1125Leu)
n.3191A>C
n.3399A>C
1g.197435101A>GCA344046780CRB1c.3238A>G (p.Ile1080Val)
c.2119A>G (p.Ile707Val)
c.1381A>G (p.Ile461Val)
c.2902A>G (p.Ile968Val)
c.3166A>G (p.Ile1056Val)
c.2129-499A>G (n.2129-499A>G)
n.3239A>G
n.3447A>G
c.2656A>G (p.Ile886Val)
c.1681A>G (p.Ile561Val)
c.2395A>G (p.Ile799Val)
c.3373A>G (p.Ile1125Val)
n.3191A>G
n.3399A>G
1g.197435101A>TCA344046781CRB1c.3238A>T (p.Ile1080Phe)
c.2119A>T (p.Ile707Phe)
c.1381A>T (p.Ile461Phe)
c.2902A>T (p.Ile968Phe)
c.3166A>T (p.Ile1056Phe)
c.2129-499A>T (n.2129-499A>T)
n.3239A>T
n.3447A>T
c.2656A>T (p.Ile886Phe)
c.1681A>T (p.Ile561Phe)
c.2395A>T (p.Ile799Phe)
c.3373A>T (p.Ile1125Phe)
n.3191A>T
n.3399A>T
1g.197435102T>ACA344046784CRB1c.3239T>A (p.Ile1080Asn)
c.2120T>A (p.Ile707Asn)
c.1382T>A (p.Ile461Asn)
c.2903T>A (p.Ile968Asn)
c.3167T>A (p.Ile1056Asn)
c.2129-498T>A (n.2129-498T>A)
n.3240T>A
n.3448T>A
c.2657T>A (p.Ile886Asn)
c.1682T>A (p.Ile561Asn)
c.2396T>A (p.Ile799Asn)
c.3374T>A (p.Ile1125Asn)
n.3192T>A
n.3400T>A
1g.197435102T>CCA1312299CRB1c.3239T>C (p.Ile1080Thr)
c.2120T>C (p.Ile707Thr)
c.1382T>C (p.Ile461Thr)
c.2903T>C (p.Ile968Thr)
c.3167T>C (p.Ile1056Thr)
c.2129-498T>C (n.2129-498T>C)
n.3240T>C
n.3448T>C
c.2657T>C (p.Ile886Thr)
c.1682T>C (p.Ile561Thr)
c.2396T>C (p.Ile799Thr)
c.3374T>C (p.Ile1125Thr)
n.3192T>C
n.3400T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435102T>GCA344046786CRB1c.3239T>G (p.Ile1080Ser)
c.2120T>G (p.Ile707Ser)
c.1382T>G (p.Ile461Ser)
c.2903T>G (p.Ile968Ser)
c.3167T>G (p.Ile1056Ser)
c.2129-498T>G (n.2129-498T>G)
n.3240T>G
n.3448T>G
c.2657T>G (p.Ile886Ser)
c.1682T>G (p.Ile561Ser)
c.2396T>G (p.Ile799Ser)
c.3374T>G (p.Ile1125Ser)
n.3192T>G
n.3400T>G
1g.197435102T=CA1218068796CRB1c.3239T= (p.Ile1080=)
c.2120T= (p.Ile707=)
c.1382T= (p.Ile461=)
c.2903T= (p.Ile968=)
c.3167T= (p.Ile1056=)
c.2129-498T= (n.2129-498T=)
n.3240T=
n.3448T=
c.2657T= (p.Ile886=)
c.1682T= (p.Ile561=)
c.2396T= (p.Ile799=)
c.3374T= (p.Ile1125=)
n.3192T=
n.3400T=
1g.197435103T>ACA422809312CRB1c.3240T>A (p.Ile1080=)
c.2121T>A (p.Ile707=)
c.1383T>A (p.Ile461=)
c.2904T>A (p.Ile968=)
c.3168T>A (p.Ile1056=)
c.2129-497T>A (n.2129-497T>A)
n.3241T>A
n.3449T>A
c.2658T>A (p.Ile886=)
c.1683T>A (p.Ile561=)
c.2397T>A (p.Ile799=)
c.3375T>A (p.Ile1125=)
n.3193T>A
n.3401T>A
1g.197435103T>CCA422809314CRB1c.3240T>C (p.Ile1080=)
c.2121T>C (p.Ile707=)
c.1383T>C (p.Ile461=)
c.2904T>C (p.Ile968=)
c.3168T>C (p.Ile1056=)
c.2129-497T>C (n.2129-497T>C)
n.3241T>C
n.3449T>C
c.2658T>C (p.Ile886=)
c.1683T>C (p.Ile561=)
c.2397T>C (p.Ile799=)
c.3375T>C (p.Ile1125=)
n.3193T>C
n.3401T>C
1g.197435103T>GCA344046791CRB1c.3240T>G (p.Ile1080Met)
c.2121T>G (p.Ile707Met)
c.1383T>G (p.Ile461Met)
c.2904T>G (p.Ile968Met)
c.3168T>G (p.Ile1056Met)
c.2129-497T>G (n.2129-497T>G)
n.3241T>G
n.3449T>G
c.2658T>G (p.Ile886Met)
c.1683T>G (p.Ile561Met)
c.2397T>G (p.Ile799Met)
c.3375T>G (p.Ile1125Met)
n.3193T>G
n.3401T>G
1g.197435104T>ACA344046797CRB1c.3241T>A (p.Tyr1081Asn)
c.2122T>A (p.Tyr708Asn)
c.1384T>A (p.Tyr462Asn)
c.2905T>A (p.Tyr969Asn)
c.3169T>A (p.Tyr1057Asn)
c.2129-496T>A (n.2129-496T>A)
n.3242T>A
n.3450T>A
c.2659T>A (p.Tyr887Asn)
c.1684T>A (p.Tyr562Asn)
c.2398T>A (p.Tyr800Asn)
c.3376T>A (p.Tyr1126Asn)
n.3194T>A
n.3402T>A
1g.197435104T>CCA344046794CRB1c.3241T>C (p.Tyr1081His)
c.2122T>C (p.Tyr708His)
c.1384T>C (p.Tyr462His)
c.2905T>C (p.Tyr969His)
c.3169T>C (p.Tyr1057His)
c.2129-496T>C (n.2129-496T>C)
n.3242T>C
n.3450T>C
c.2659T>C (p.Tyr887His)
c.1684T>C (p.Tyr562His)
c.2398T>C (p.Tyr800His)
c.3376T>C (p.Tyr1126His)
n.3194T>C
n.3402T>C
 ClinVar dbSNP
1g.197435104T>GCA344046796CRB1c.3241T>G (p.Tyr1081Asp)
c.2122T>G (p.Tyr708Asp)
c.1384T>G (p.Tyr462Asp)
c.2905T>G (p.Tyr969Asp)
c.3169T>G (p.Tyr1057Asp)
c.2129-496T>G (n.2129-496T>G)
n.3242T>G
n.3450T>G
c.2659T>G (p.Tyr887Asp)
c.1684T>G (p.Tyr562Asp)
c.2398T>G (p.Tyr800Asp)
c.3376T>G (p.Tyr1126Asp)
n.3194T>G
n.3402T>G
1g.197435105A>CCA344046799CRB1c.3242A>C (p.Tyr1081Ser)
c.2123A>C (p.Tyr708Ser)
c.1385A>C (p.Tyr462Ser)
c.2906A>C (p.Tyr969Ser)
c.3170A>C (p.Tyr1057Ser)
c.2129-495A>C (n.2129-495A>C)
n.3243A>C
n.3451A>C
c.2660A>C (p.Tyr887Ser)
c.1685A>C (p.Tyr562Ser)
c.2399A>C (p.Tyr800Ser)
c.3377A>C (p.Tyr1126Ser)
n.3195A>C
n.3403A>C
1g.197435105A>GCA344046801CRB1c.3242A>G (p.Tyr1081Cys)
c.2123A>G (p.Tyr708Cys)
c.1385A>G (p.Tyr462Cys)
c.2906A>G (p.Tyr969Cys)
c.3170A>G (p.Tyr1057Cys)
c.2129-495A>G (n.2129-495A>G)
n.3243A>G
n.3451A>G
c.2660A>G (p.Tyr887Cys)
c.1685A>G (p.Tyr562Cys)
c.2399A>G (p.Tyr800Cys)
c.3377A>G (p.Tyr1126Cys)
n.3195A>G
n.3403A>G
1g.197435105A>TCA344046803CRB1c.3242A>T (p.Tyr1081Phe)
c.2123A>T (p.Tyr708Phe)
c.1385A>T (p.Tyr462Phe)
c.2906A>T (p.Tyr969Phe)
c.3170A>T (p.Tyr1057Phe)
c.2129-495A>T (n.2129-495A>T)
n.3243A>T
n.3451A>T
c.2660A>T (p.Tyr887Phe)
c.1685A>T (p.Tyr562Phe)
c.2399A>T (p.Tyr800Phe)
c.3377A>T (p.Tyr1126Phe)
n.3195A>T
n.3403A>T
1g.197435106T>ACA344046805CRB1c.3243T>A (p.Tyr1081Ter)
c.2124T>A (p.Tyr708Ter)
c.1386T>A (p.Tyr462Ter)
c.2907T>A (p.Tyr969Ter)
c.3171T>A (p.Tyr1057Ter)
c.2129-494T>A (n.2129-494T>A)
n.3244T>A
n.3452T>A
c.2661T>A (p.Tyr887Ter)
c.1686T>A (p.Tyr562Ter)
c.2400T>A (p.Tyr800Ter)
c.3378T>A (p.Tyr1126Ter)
n.3196T>A
n.3404T>A
1g.197435106T>CCA422809324CRB1c.3243T>C (p.Tyr1081=)
c.2124T>C (p.Tyr708=)
c.1386T>C (p.Tyr462=)
c.2907T>C (p.Tyr969=)
c.3171T>C (p.Tyr1057=)
c.2129-494T>C (n.2129-494T>C)
n.3244T>C
n.3452T>C
c.2661T>C (p.Tyr887=)
c.1686T>C (p.Tyr562=)
c.2400T>C (p.Tyr800=)
c.3378T>C (p.Tyr1126=)
n.3196T>C
n.3404T>C
 ClinVar dbSNP gnomAD v4
1g.197435106T>GCA344046807CRB1c.3243T>G (p.Tyr1081Ter)
c.2124T>G (p.Tyr708Ter)
c.1386T>G (p.Tyr462Ter)
c.2907T>G (p.Tyr969Ter)
c.3171T>G (p.Tyr1057Ter)
c.2129-494T>G (n.2129-494T>G)
n.3244T>G
n.3452T>G
c.2661T>G (p.Tyr887Ter)
c.1686T>G (p.Tyr562Ter)
c.2400T>G (p.Tyr800Ter)
c.3378T>G (p.Tyr1126Ter)
n.3196T>G
n.3404T>G
1g.197435106T=CA1218068797CRB1c.3243T= (p.Tyr1081=)
c.2124T= (p.Tyr708=)
c.1386T= (p.Tyr462=)
c.2907T= (p.Tyr969=)
c.3171T= (p.Tyr1057=)
c.2129-494T= (n.2129-494T=)
n.3244T=
n.3452T=
c.2661T= (p.Tyr887=)
c.1686T= (p.Tyr562=)
c.2400T= (p.Tyr800=)
c.3378T= (p.Tyr1126=)
n.3196T=
n.3404T=
1g.197435107G>ACA1312300CRB1c.3244G>A (p.Val1082Met)
c.2125G>A (p.Val709Met)
c.1387G>A (p.Val463Met)
c.2908G>A (p.Val970Met)
c.3172G>A (p.Val1058Met)
c.2129-493G>A (n.2129-493G>A)
n.3245G>A
n.3453G>A
c.2662G>A (p.Val888Met)
c.1687G>A (p.Val563Met)
c.2401G>A (p.Val801Met)
c.3379G>A (p.Val1127Met)
n.3197G>A
n.3405G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435107G>CCA344046810CRB1c.3244G>C (p.Val1082Leu)
c.2125G>C (p.Val709Leu)
c.1387G>C (p.Val463Leu)
c.2908G>C (p.Val970Leu)
c.3172G>C (p.Val1058Leu)
c.2129-493G>C (n.2129-493G>C)
n.3245G>C
n.3453G>C
c.2662G>C (p.Val888Leu)
c.1687G>C (p.Val563Leu)
c.2401G>C (p.Val801Leu)
c.3379G>C (p.Val1127Leu)
n.3197G>C
n.3405G>C
1g.197435107G=CA1147340023CRB1c.3244G= (p.Val1082=)
c.2125G= (p.Val709=)
c.1387G= (p.Val463=)
c.2908G= (p.Val970=)
c.3172G= (p.Val1058=)
c.2129-493G= (n.2129-493G=)
n.3245G=
n.3453G=
c.2662G= (p.Val888=)
c.1687G= (p.Val563=)
c.2401G= (p.Val801=)
c.3379G= (p.Val1127=)
n.3197G=
n.3405G=
1g.197435107G>TCA344046812CRB1c.3244G>T (p.Val1082Leu)
c.2125G>T (p.Val709Leu)
c.1387G>T (p.Val463Leu)
c.2908G>T (p.Val970Leu)
c.3172G>T (p.Val1058Leu)
c.2129-493G>T (n.2129-493G>T)
n.3245G>T
n.3453G>T
c.2662G>T (p.Val888Leu)
c.1687G>T (p.Val563Leu)
c.2401G>T (p.Val801Leu)
c.3379G>T (p.Val1127Leu)
n.3197G>T
n.3405G>T
1g.197435108T>ACA344046815CRB1c.3245T>A (p.Val1082Glu)
c.2126T>A (p.Val709Glu)
c.1388T>A (p.Val463Glu)
c.2909T>A (p.Val970Glu)
c.3173T>A (p.Val1058Glu)
c.2129-492T>A (n.2129-492T>A)
n.3246T>A
n.3454T>A
c.2663T>A (p.Val888Glu)
c.1688T>A (p.Val563Glu)
c.2402T>A (p.Val801Glu)
c.3380T>A (p.Val1127Glu)
n.3198T>A
n.3406T>A
1g.197435108T>CCA344046816CRB1c.3245T>C (p.Val1082Ala)
c.2126T>C (p.Val709Ala)
c.1388T>C (p.Val463Ala)
c.2909T>C (p.Val970Ala)
c.3173T>C (p.Val1058Ala)
c.2129-492T>C (n.2129-492T>C)
n.3246T>C
n.3454T>C
c.2663T>C (p.Val888Ala)
c.1688T>C (p.Val563Ala)
c.2402T>C (p.Val801Ala)
c.3380T>C (p.Val1127Ala)
n.3198T>C
n.3406T>C
1g.197435108T>GCA344046819CRB1c.3245T>G (p.Val1082Gly)
c.2126T>G (p.Val709Gly)
c.1388T>G (p.Val463Gly)
c.2909T>G (p.Val970Gly)
c.3173T>G (p.Val1058Gly)
c.2129-492T>G (n.2129-492T>G)
n.3246T>G
n.3454T>G
c.2663T>G (p.Val888Gly)
c.1688T>G (p.Val563Gly)
c.2402T>G (p.Val801Gly)
c.3380T>G (p.Val1127Gly)
n.3198T>G
n.3406T>G

Number of alleles fetched